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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: 1-42545489-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=42545489&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 42545489,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001395517.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.800C>A",
"hgvs_p": "p.Thr267Lys",
"transcript": "NM_001395517.1",
"protein_id": "NP_001382446.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 938,
"cds_start": 800,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000657597.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395517.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.800C>A",
"hgvs_p": "p.Thr267Lys",
"transcript": "ENST00000657597.2",
"protein_id": "ENSP00000499662.2",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 938,
"cds_start": 800,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395517.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000657597.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.27+8888C>A",
"hgvs_p": null,
"transcript": "ENST00000514642.1",
"protein_id": "ENSP00000499505.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.*740C>A",
"hgvs_p": null,
"transcript": "ENST00000477155.6",
"protein_id": "ENSP00000421479.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000477155.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.*740C>A",
"hgvs_p": null,
"transcript": "ENST00000477155.6",
"protein_id": "ENSP00000421479.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000477155.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "n.611-20807C>A",
"hgvs_p": null,
"transcript": "ENST00000507855.5",
"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": "ENST00000507855.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.464C>A",
"hgvs_p": "p.Thr155Lys",
"transcript": "ENST00000340612.6",
"protein_id": "ENSP00000340378.5",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 826,
"cds_start": 464,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340612.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.557C>A",
"hgvs_p": "p.Thr186Lys",
"transcript": "ENST00000671538.1",
"protein_id": "ENSP00000499316.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 796,
"cds_start": 557,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000671538.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "NM_001080850.4",
"protein_id": "NP_001074319.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 783,
"cds_start": 335,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001080850.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.335C>A",
"hgvs_p": "p.Thr112Lys",
"transcript": "ENST00000342022.8",
"protein_id": "ENSP00000339280.4",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 783,
"cds_start": 335,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342022.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-710C>A",
"hgvs_p": null,
"transcript": "NM_001355224.2",
"protein_id": "NP_001342153.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": null,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355224.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.-322C>A",
"hgvs_p": null,
"transcript": "NM_001355227.2",
"protein_id": "NP_001342156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 437,
"cds_start": null,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355227.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.582+8888C>A",
"hgvs_p": null,
"transcript": "NM_001395379.1",
"protein_id": "NP_001382308.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": null,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "NM_001395382.1",
"protein_id": "NP_001382311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395382.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "NM_001395383.1",
"protein_id": "NP_001382312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395383.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "NM_001395384.1",
"protein_id": "NP_001382313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395384.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "NM_001395385.1",
"protein_id": "NP_001382314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "ENST00000660083.1",
"protein_id": "ENSP00000499483.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660083.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "ENST00000664805.1",
"protein_id": "ENSP00000499336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000664805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "ENST00000667205.1",
"protein_id": "ENSP00000499722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667205.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "ENST00000668663.1",
"protein_id": "ENSP00000499699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 710,
"cds_start": null,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000668663.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC30",
"gene_hgnc_id": 26103,
"hgvs_c": "c.457-20807C>A",
"hgvs_p": null,
"transcript": "ENST00000665176.1",
"protein_id": "ENSP00000499388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": null,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000665176.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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{
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{
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{
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{
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{
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{
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{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "CCDC30",
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"hgvs_c": "c.*71C>A",
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"transcript": "ENST00000668036.1",
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"biotype": "protein_coding",
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],
"gene_symbol": "CCDC30",
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"dbsnp": "rs370695814",
"frequency_reference_population": 0.000028060846,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000289327,
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"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05657109618186951,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.067,
"revel_prediction": "Benign",
"alphamissense_score": 0.1104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.272,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001395517.1",
"gene_symbol": "CCDC30",
"hgnc_id": 26103,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.800C>A",
"hgvs_p": "p.Thr267Lys"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}