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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: 4-182736806-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=182736806&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 182736806,
"ref": "A",
"alt": "T",
"effect": "splice_acceptor_variant,intron_variant",
"transcript": "ENST00000511685.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001080477.4",
"protein_id": "NP_001073946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2699,
"cds_start": -4,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10923,
"mane_select": "ENST00000511685.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "ENST00000511685.6",
"protein_id": "ENSP00000424226.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2699,
"cds_start": -4,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10923,
"mane_select": "NM_001080477.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001415969.1",
"protein_id": "NP_001402898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2706,
"cds_start": -4,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001415970.1",
"protein_id": "NP_001402899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2706,
"cds_start": -4,
"cds_end": null,
"cds_length": 8121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001415968.1",
"protein_id": "NP_001402897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2705,
"cds_start": -4,
"cds_end": null,
"cds_length": 8118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001415971.1",
"protein_id": "NP_001402900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2699,
"cds_start": -4,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001415973.1",
"protein_id": "NP_001402902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2699,
"cds_start": -4,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001415974.1",
"protein_id": "NP_001402903.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2698,
"cds_start": -4,
"cds_end": null,
"cds_length": 8097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2968-2A>T",
"hgvs_p": null,
"transcript": "NM_001415975.1",
"protein_id": "NP_001402904.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2698,
"cds_start": -4,
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"cds_length": 8097,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2689-2A>T",
"hgvs_p": null,
"transcript": "NM_001415967.1",
"protein_id": "NP_001402896.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TENM3",
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"hgvs_c": "c.2689-2A>T",
"hgvs_p": null,
"transcript": "NM_001415976.1",
"protein_id": "NP_001402905.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "TENM3",
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"hgvs_c": "c.2689-2A>T",
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"transcript": "NM_001415977.1",
"protein_id": "NP_001402906.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 15,
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"gene_symbol": "TENM3",
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"hgvs_c": "c.2689-2A>T",
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"transcript": "NM_001415966.1",
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},
{
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"strand": true,
"consequences": [
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"intron_variant"
],
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"gene_symbol": "TENM3",
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},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 14,
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"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2152-2A>T",
"hgvs_p": null,
"transcript": "NM_001415961.1",
"protein_id": "NP_001402890.1",
"transcript_support_level": null,
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},
{
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "TENM3",
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"hgvs_c": "c.2152-2A>T",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 14,
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"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2152-2A>T",
"hgvs_p": null,
"transcript": "NM_001415963.1",
"protein_id": "NP_001402892.1",
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},
{
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"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2152-2A>T",
"hgvs_p": null,
"transcript": "NM_001415964.1",
"protein_id": "NP_001402893.1",
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},
{
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"consequences": [
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"intron_variant"
],
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"intron_rank": 8,
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"gene_symbol": "TENM3",
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},
{
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 20,
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"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2995-2A>T",
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"transcript": "XM_017008385.2",
"protein_id": "XP_016863874.1",
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},
{
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"consequences": [
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"intron_variant"
],
"exon_rank": null,
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"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2995-2A>T",
"hgvs_p": null,
"transcript": "XM_017008386.2",
"protein_id": "XP_016863875.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_acceptor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "TENM3",
"gene_hgnc_id": 29944,
"hgvs_c": "c.2995-2A>T",
"hgvs_p": null,
"transcript": "XM_017008387.3",
"protein_id": "XP_016863876.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
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"clinvar_review_status": "no assertion criteria provided",
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"phenotype_combined": "MICROPHTHALMIA, SYNDROMIC 15",
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}