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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-82906007-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82906007&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82906007,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005993.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "NM_005993.5",
"protein_id": "NP_005984.3",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355528.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005993.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000355528.9",
"protein_id": "ENSP00000347719.4",
"transcript_support_level": 1,
"aa_start": 626,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005993.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355528.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.394G>A",
"hgvs_p": "p.Ala132Thr",
"transcript": "ENST00000571316.5",
"protein_id": "ENSP00000458365.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 237,
"cds_start": 394,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571316.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.393G>A",
"hgvs_p": null,
"transcript": "ENST00000571796.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000571796.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2143G>A",
"hgvs_p": "p.Ala715Thr",
"transcript": "ENST00000684760.1",
"protein_id": "ENSP00000507696.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2143,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684760.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "ENST00000684349.1",
"protein_id": "ENSP00000508067.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2062,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684349.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000539345.6",
"protein_id": "ENSP00000440671.2",
"transcript_support_level": 5,
"aa_start": 626,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539345.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000857311.1",
"protein_id": "ENSP00000527370.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1224,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857311.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000684464.1",
"protein_id": "ENSP00000508333.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684464.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1966G>A",
"hgvs_p": "p.Ala656Thr",
"transcript": "ENST00000682479.1",
"protein_id": "ENSP00000508214.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 1222,
"cds_start": 1966,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682479.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Ala654Thr",
"transcript": "ENST00000684000.1",
"protein_id": "ENSP00000506795.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1960,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684000.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "ENST00000959286.1",
"protein_id": "ENSP00000629345.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1207,
"cds_start": 1825,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959286.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000959289.1",
"protein_id": "ENSP00000629348.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1203,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959289.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000857314.1",
"protein_id": "ENSP00000527373.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1201,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857314.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000857310.1",
"protein_id": "ENSP00000527369.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1199,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857310.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000959287.1",
"protein_id": "ENSP00000629346.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1196,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959287.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr",
"transcript": "ENST00000915788.1",
"protein_id": "ENSP00000585847.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1876,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915788.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "NM_001411101.1",
"protein_id": "NP_001398030.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1825,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411101.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1825G>A",
"hgvs_p": "p.Ala609Thr",
"transcript": "ENST00000682722.1",
"protein_id": "ENSP00000508364.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1825,
"cds_end": null,
"cds_length": 3528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682722.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1804G>A",
"hgvs_p": "p.Ala602Thr",
"transcript": "ENST00000684429.1",
"protein_id": "ENSP00000507224.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 1168,
"cds_start": 1804,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684429.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Ala599Thr",
"transcript": "NM_001411102.1",
"protein_id": "NP_001398031.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1795,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411102.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Ala599Thr",
"transcript": "ENST00000684544.1",
"protein_id": "ENSP00000507337.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1795,
"cds_end": null,
"cds_length": 3498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"canonical": false,
"protein_coding": false,
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{
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{
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"protein_coding": false,
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
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"feature": "ENST00000683184.1"
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{
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"protein_coding": false,
"strand": true,
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"exon_rank": 21,
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"gene_symbol": "TBCD",
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{
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"gene_symbol": "TBCD",
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"feature": "ENST00000684776.1"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 36,
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"gene_symbol": "TBCD",
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"hgvs_c": "n.1804+2529G>A",
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"transcript": "ENST00000682213.1",
"protein_id": "ENSP00000508166.1",
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682213.1"
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],
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"dbsnp": "rs749225304",
"frequency_reference_population": 0.000008061846,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000821758,
"gnomad_genomes_af": 0.00000656814,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7459191083908081,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.442,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3674,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.031,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005993.5",
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1876G>A",
"hgvs_p": "p.Ala626Thr"
}
],
"clinvar_disease": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}