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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: 9-128927081-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128927081&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128927081,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_174933.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "NM_001100876.2",
"protein_id": "NP_001094346.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 291,
"cds_start": 77,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372592.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100876.2"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000372592.8",
"protein_id": "ENSP00000361673.3",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 291,
"cds_start": 77,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001100876.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372592.8"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000308941.9",
"protein_id": "ENSP00000309515.5",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 297,
"cds_start": 77,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308941.9"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000421063.6",
"protein_id": "ENSP00000409928.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 270,
"cds_start": 77,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421063.6"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875821.1",
"protein_id": "ENSP00000545880.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 301,
"cds_start": 77,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875821.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875820.1",
"protein_id": "ENSP00000545879.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 298,
"cds_start": 77,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875820.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875825.1",
"protein_id": "ENSP00000545884.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 298,
"cds_start": 77,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875825.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "NM_174933.4",
"protein_id": "NP_777593.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 297,
"cds_start": 77,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174933.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875823.1",
"protein_id": "ENSP00000545882.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 291,
"cds_start": 77,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875823.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875828.1",
"protein_id": "ENSP00000545887.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 291,
"cds_start": 77,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875828.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875831.1",
"protein_id": "ENSP00000545890.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 291,
"cds_start": 77,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875831.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875832.1",
"protein_id": "ENSP00000545891.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 291,
"cds_start": 77,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875832.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000970310.1",
"protein_id": "ENSP00000640369.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 291,
"cds_start": 77,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970310.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Glu",
"transcript": "ENST00000875818.1",
"protein_id": "ENSP00000545877.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 288,
"cds_start": 68,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875818.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Glu",
"transcript": "ENST00000970309.1",
"protein_id": "ENSP00000640368.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 288,
"cds_start": 68,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970309.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Glu",
"transcript": "ENST00000875829.1",
"protein_id": "ENSP00000545888.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 276,
"cds_start": 68,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875829.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "NM_001100877.1",
"protein_id": "NP_001094347.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 270,
"cds_start": 77,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100877.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000353176.9",
"protein_id": "ENSP00000340945.5",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 270,
"cds_start": 77,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353176.9"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875824.1",
"protein_id": "ENSP00000545883.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 252,
"cds_start": 77,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875824.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000970308.1",
"protein_id": "ENSP00000640367.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 252,
"cds_start": 77,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970308.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.68C>A",
"hgvs_p": "p.Ala23Glu",
"transcript": "ENST00000875833.1",
"protein_id": "ENSP00000545892.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 249,
"cds_start": 68,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875833.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYHD1",
"gene_hgnc_id": 23396,
"hgvs_c": "c.77C>A",
"hgvs_p": "p.Ala26Glu",
"transcript": "ENST00000875826.1",
"protein_id": "ENSP00000545885.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 248,
"cds_start": 77,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875826.1"
},
{
"aa_ref": "A",
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}