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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: 17-82905981-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82905981&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82905981,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000355528.9",
"consequences": [
{
"aa_ref": "M",
"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.1850T>C",
"hgvs_p": "p.Met617Thr",
"transcript": "NM_005993.5",
"protein_id": "NP_005984.3",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1850,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "ENST00000355528.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1850T>C",
"hgvs_p": "p.Met617Thr",
"transcript": "ENST00000355528.9",
"protein_id": "ENSP00000347719.4",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 1192,
"cds_start": 1850,
"cds_end": null,
"cds_length": 3579,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "NM_005993.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.368T>C",
"hgvs_p": "p.Met123Thr",
"transcript": "ENST00000571316.5",
"protein_id": "ENSP00000458365.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 237,
"cds_start": 368,
"cds_end": null,
"cds_length": 714,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.367T>C",
"hgvs_p": null,
"transcript": "ENST00000571796.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.2117T>C",
"hgvs_p": "p.Met706Thr",
"transcript": "ENST00000684760.1",
"protein_id": "ENSP00000507696.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 1281,
"cds_start": 2117,
"cds_end": null,
"cds_length": 3846,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 7403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.2036T>C",
"hgvs_p": "p.Met679Thr",
"transcript": "ENST00000684349.1",
"protein_id": "ENSP00000508067.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1254,
"cds_start": 2036,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 7322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1850T>C",
"hgvs_p": "p.Met617Thr",
"transcript": "ENST00000539345.6",
"protein_id": "ENSP00000440671.2",
"transcript_support_level": 5,
"aa_start": 617,
"aa_end": null,
"aa_length": 1230,
"cds_start": 1850,
"cds_end": null,
"cds_length": 3693,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 3975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1850T>C",
"hgvs_p": "p.Met617Thr",
"transcript": "ENST00000684464.1",
"protein_id": "ENSP00000508333.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1223,
"cds_start": 1850,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 7252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1940T>C",
"hgvs_p": "p.Met647Thr",
"transcript": "ENST00000682479.1",
"protein_id": "ENSP00000508214.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 1222,
"cds_start": 1940,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 7258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1934T>C",
"hgvs_p": "p.Met645Thr",
"transcript": "ENST00000684000.1",
"protein_id": "ENSP00000506795.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 1220,
"cds_start": 1934,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 7100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1799T>C",
"hgvs_p": "p.Met600Thr",
"transcript": "NM_001411101.1",
"protein_id": "NP_001398030.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1799,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 7108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1799T>C",
"hgvs_p": "p.Met600Thr",
"transcript": "ENST00000682722.1",
"protein_id": "ENSP00000508364.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 1175,
"cds_start": 1799,
"cds_end": null,
"cds_length": 3528,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 7111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1778T>C",
"hgvs_p": "p.Met593Thr",
"transcript": "ENST00000684429.1",
"protein_id": "ENSP00000507224.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 1168,
"cds_start": 1778,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 7168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1769T>C",
"hgvs_p": "p.Met590Thr",
"transcript": "NM_001411102.1",
"protein_id": "NP_001398031.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1769,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 7078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1769T>C",
"hgvs_p": "p.Met590Thr",
"transcript": "ENST00000684544.1",
"protein_id": "ENSP00000507337.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 1165,
"cds_start": 1769,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1850T>C",
"hgvs_p": "p.Met617Thr",
"transcript": "ENST00000683282.1",
"protein_id": "ENSP00000506913.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 1164,
"cds_start": 1850,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 7064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1661T>C",
"hgvs_p": "p.Met554Thr",
"transcript": "NM_001438250.1",
"protein_id": "NP_001425179.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 7109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"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.1661T>C",
"hgvs_p": "p.Met554Thr",
"transcript": "ENST00000684188.1",
"protein_id": "ENSP00000507153.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 1129,
"cds_start": 1661,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.164T>C",
"hgvs_p": "p.Met55Thr",
"transcript": "ENST00000682315.1",
"protein_id": "ENSP00000507232.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 630,
"cds_start": 164,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 246,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.164T>C",
"hgvs_p": "p.Met55Thr",
"transcript": "ENST00000683821.1",
"protein_id": "ENSP00000507651.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 630,
"cds_start": 164,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.164T>C",
"hgvs_p": "p.Met55Thr",
"transcript": "ENST00000576760.5",
"protein_id": "ENSP00000460949.1",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 255,
"cds_start": 164,
"cds_end": null,
"cds_length": 770,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.164T>C",
"hgvs_p": "p.Met55Thr",
"transcript": "ENST00000574422.1",
"protein_id": "ENSP00000458599.1",
"transcript_support_level": 2,
"aa_start": 55,
"aa_end": null,
"aa_length": 243,
"cds_start": 164,
"cds_end": null,
"cds_length": 733,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.308T>C",
"hgvs_p": "p.Met103Thr",
"transcript": "ENST00000572953.5",
"protein_id": "ENSP00000458556.1",
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{
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "not provided|Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}