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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: 11-68047564-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68047564&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68047564,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000265686.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "NM_006019.4",
"protein_id": "NP_006010.2",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 830,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "ENST00000265686.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "ENST00000265686.8",
"protein_id": "ENSP00000265686.3",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 830,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": "NM_006019.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Gln217*",
"transcript": "ENST00000532635.5",
"protein_id": "ENSP00000434407.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 614,
"cds_start": 649,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "NM_001440552.1",
"protein_id": "NP_001427481.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 830,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 2839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "NM_001440553.1",
"protein_id": "NP_001427482.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 830,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 3227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "NM_001440554.1",
"protein_id": "NP_001427483.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 830,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1730,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "NM_001440555.1",
"protein_id": "NP_001427484.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 816,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1525,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "NM_001440556.1",
"protein_id": "NP_001427485.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 816,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1246C>T",
"hgvs_p": "p.Gln416*",
"transcript": "ENST00000698255.1",
"protein_id": "ENSP00000513630.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 813,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "NM_001440557.1",
"protein_id": "NP_001427486.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 760,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 2661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "NM_001440558.1",
"protein_id": "NP_001427487.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 760,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Gln362*",
"transcript": "NM_001440559.1",
"protein_id": "NP_001427488.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 759,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Gln362*",
"transcript": "NM_001440560.1",
"protein_id": "NP_001427489.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 759,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Gln362*",
"transcript": "NM_001440561.1",
"protein_id": "NP_001427490.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 759,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Gln362*",
"transcript": "NM_001440562.1",
"protein_id": "NP_001427491.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 759,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "NM_001440563.1",
"protein_id": "NP_001427492.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 746,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Gln348*",
"transcript": "NM_001440564.1",
"protein_id": "NP_001427493.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 745,
"cds_start": 1042,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Gln333*",
"transcript": "NM_001440565.1",
"protein_id": "NP_001427494.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 730,
"cds_start": 997,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Gln362*",
"transcript": "NM_001440566.1",
"protein_id": "NP_001427495.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 689,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 2448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Gln362*",
"transcript": "NM_001440567.1",
"protein_id": "NP_001427496.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 676,
"cds_start": 1084,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1183,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Gln277*",
"transcript": "NM_001440568.1",
"protein_id": "NP_001427497.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 674,
"cds_start": 829,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
"hgvs_c": "c.826C>T",
"hgvs_p": "p.Gln276*",
"transcript": "ENST00000698254.1",
"protein_id": "ENSP00000513629.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 673,
"cds_start": 826,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCIRG1",
"gene_hgnc_id": 11647,
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Autosomal recessive osteopetrosis 1|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
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}