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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: 5-167876040-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=167876040&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 167876040,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001395460.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "NM_001395460.1",
"protein_id": "NP_001382389.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 2774,
"cds_start": 557,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518659.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395460.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "ENST00000518659.6",
"protein_id": "ENSP00000429430.1",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 2774,
"cds_start": 557,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395460.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518659.6"
},
{
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.140-76548C>T",
"hgvs_p": null,
"transcript": "ENST00000520394.5",
"protein_id": "ENSP00000427874.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2535,
"cds_start": null,
"cds_end": null,
"cds_length": 7608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520394.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "NM_001122679.2",
"protein_id": "NP_001116151.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 2765,
"cds_start": 557,
"cds_end": null,
"cds_length": 8298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122679.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "ENST00000519204.5",
"protein_id": "ENSP00000428964.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 2653,
"cds_start": 194,
"cds_end": null,
"cds_length": 7962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519204.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "NM_001368145.1",
"protein_id": "NP_001355074.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 2615,
"cds_start": 101,
"cds_end": null,
"cds_length": 7848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368145.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "NM_001368146.1",
"protein_id": "NP_001355075.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 2613,
"cds_start": 101,
"cds_end": null,
"cds_length": 7842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368146.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "ENST00000695886.1",
"protein_id": "ENSP00000512239.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 2613,
"cds_start": 101,
"cds_end": null,
"cds_length": 7842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695886.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "XM_017009661.2",
"protein_id": "XP_016865150.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 2767,
"cds_start": 557,
"cds_end": null,
"cds_length": 8304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009661.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "XM_005265950.3",
"protein_id": "XP_005266007.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 2765,
"cds_start": 557,
"cds_end": null,
"cds_length": 8298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265950.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "XM_047417418.1",
"protein_id": "XP_047273374.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 2758,
"cds_start": 557,
"cds_end": null,
"cds_length": 8277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417418.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "XM_011534604.3",
"protein_id": "XP_011532906.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 2703,
"cds_start": 557,
"cds_end": null,
"cds_length": 8112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534604.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "XM_017009663.3",
"protein_id": "XP_016865152.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 2699,
"cds_start": 332,
"cds_end": null,
"cds_length": 8100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009663.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.557C>T",
"hgvs_p": "p.Pro186Leu",
"transcript": "XM_047417420.1",
"protein_id": "XP_047273376.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 2696,
"cds_start": 557,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417420.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "XM_047417421.1",
"protein_id": "XP_047273377.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 2692,
"cds_start": 332,
"cds_end": null,
"cds_length": 8079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417421.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "XM_047417422.1",
"protein_id": "XP_047273378.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 2690,
"cds_start": 332,
"cds_end": null,
"cds_length": 8073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417422.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Pro111Leu",
"transcript": "XM_047417423.1",
"protein_id": "XP_047273379.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 2683,
"cds_start": 332,
"cds_end": null,
"cds_length": 8052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417423.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "XM_017009664.2",
"protein_id": "XP_016865153.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2653,
"cds_start": 194,
"cds_end": null,
"cds_length": 7962,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009664.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "XM_047417424.1",
"protein_id": "XP_047273380.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2646,
"cds_start": 194,
"cds_end": null,
"cds_length": 7941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417424.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "XM_047417425.1",
"protein_id": "XP_047273381.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2644,
"cds_start": 194,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417425.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.194C>T",
"hgvs_p": "p.Pro65Leu",
"transcript": "XM_047417426.1",
"protein_id": "XP_047273382.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 2637,
"cds_start": 194,
"cds_end": null,
"cds_length": 7914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417426.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"transcript": "XM_017009665.2",
"protein_id": "XP_016865154.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 2622,
"cds_start": 101,
"cds_end": null,
"cds_length": 7869,
"cdna_start": null,
"cdna_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}