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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: 2-157739685-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=157739685&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 157739685,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000434821.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "NM_001111067.4",
"protein_id": "NP_001104537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": "ENST00000434821.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000434821.7",
"protein_id": "ENSP00000405004.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3332,
"mane_select": "NM_001111067.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000263640.7",
"protein_id": "ENSP00000263640.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000410057.6",
"protein_id": "ENSP00000387127.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "n.1970C>A",
"hgvs_p": null,
"transcript": "ENST00000683514.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "NM_001105.5",
"protein_id": "NP_001096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "NM_001347663.1",
"protein_id": "NP_001334592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "NM_001347664.1",
"protein_id": "NP_001334593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "NM_001347665.1",
"protein_id": "NP_001334594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "NM_001347666.1",
"protein_id": "NP_001334595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "NM_001347667.2",
"protein_id": "NP_001334596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 509,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000409283.6",
"protein_id": "ENSP00000387273.2",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000424669.6",
"protein_id": "ENSP00000400767.2",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000539637.6",
"protein_id": "ENSP00000440091.2",
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"aa_start": null,
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000672582.1",
"protein_id": "ENSP00000500605.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 10,
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"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
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"transcript": "ENST00000673324.1",
"protein_id": "ENSP00000500109.1",
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},
{
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],
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"intron_rank": 10,
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"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000682025.1",
"protein_id": "ENSP00000507086.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000682300.1",
"protein_id": "ENSP00000507102.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000683441.1",
"protein_id": "ENSP00000508189.1",
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},
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],
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"intron_rank": 10,
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"gene_symbol": "ACVR1",
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"hgvs_c": "c.1265-1115C>A",
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"transcript": "ENST00000683487.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
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"gene_symbol": "ACVR1",
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"hgvs_c": "c.1265-1115C>A",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000684348.1",
"protein_id": "ENSP00000508136.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.1265-1115C>A",
"hgvs_p": null,
"transcript": "ENST00000684595.1",
"protein_id": "ENSP00000507730.1",
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"cdna_start": null,
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}
],
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}