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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: 3-111884508-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=111884508&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 111884508,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001134438.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "NM_001134438.2",
"protein_id": "NP_001127910.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1253,
"cds_start": 431,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431670.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134438.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000431670.7",
"protein_id": "ENSP00000405405.2",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1253,
"cds_start": 431,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134438.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431670.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000393925.7",
"protein_id": "ENSP00000377502.3",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1253,
"cds_start": 431,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393925.7"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000481953.5",
"protein_id": "ENSP00000418319.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1210,
"cds_start": 431,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481953.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000498699.5",
"protein_id": "ENSP00000418296.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 1114,
"cds_start": 431,
"cds_end": null,
"cds_length": 3346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498699.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000477695.5",
"protein_id": "ENSP00000418198.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 581,
"cds_start": 431,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477695.5"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000478922.1",
"protein_id": "ENSP00000417497.1",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 519,
"cds_start": 431,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478922.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948964.1",
"protein_id": "ENSP00000619023.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1292,
"cds_start": 431,
"cds_end": null,
"cds_length": 3879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948964.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000932392.1",
"protein_id": "ENSP00000602451.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1290,
"cds_start": 431,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932392.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948974.1",
"protein_id": "ENSP00000619033.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1288,
"cds_start": 431,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948974.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948968.1",
"protein_id": "ENSP00000619027.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1287,
"cds_start": 431,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948968.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948965.1",
"protein_id": "ENSP00000619024.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1280,
"cds_start": 431,
"cds_end": null,
"cds_length": 3843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948965.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000878057.1",
"protein_id": "ENSP00000548116.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1273,
"cds_start": 431,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878057.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948969.1",
"protein_id": "ENSP00000619028.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1268,
"cds_start": 431,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948969.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "NM_001134439.2",
"protein_id": "NP_001127911.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1253,
"cds_start": 431,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134439.2"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000878043.1",
"protein_id": "ENSP00000548102.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1253,
"cds_start": 431,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878043.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000878046.1",
"protein_id": "ENSP00000548105.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1253,
"cds_start": 431,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878046.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948979.1",
"protein_id": "ENSP00000619038.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1253,
"cds_start": 431,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948979.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948971.1",
"protein_id": "ENSP00000619030.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1245,
"cds_start": 431,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948971.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948975.1",
"protein_id": "ENSP00000619034.1",
"transcript_support_level": null,
"aa_start": 144,
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"aa_length": 1245,
"cds_start": 431,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948975.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948980.1",
"protein_id": "ENSP00000619039.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1244,
"cds_start": 431,
"cds_end": null,
"cds_length": 3735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948980.1"
},
{
"aa_ref": "E",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHLDB2",
"gene_hgnc_id": 29573,
"hgvs_c": "c.431A>T",
"hgvs_p": "p.Glu144Val",
"transcript": "ENST00000948961.1",
"protein_id": "ENSP00000619020.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1243,
"cds_start": 431,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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