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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: 2-46512063-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46512063&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 46512063,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001318063.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "NM_001318063.2",
"protein_id": "NP_001304992.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000522587.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318063.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000522587.6",
"protein_id": "ENSP00000428141.1",
"transcript_support_level": 3,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318063.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522587.6"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000306448.4",
"protein_id": "ENSP00000304891.4",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306448.4"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "NM_001371281.1",
"protein_id": "NP_001358210.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371281.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "NM_001371282.1",
"protein_id": "NP_001358211.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371282.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "NM_001371283.1",
"protein_id": "NP_001358212.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371283.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890126.1",
"protein_id": "ENSP00000560185.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890126.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890127.1",
"protein_id": "ENSP00000560186.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890127.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890128.1",
"protein_id": "ENSP00000560187.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890128.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890129.1",
"protein_id": "ENSP00000560188.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890129.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890130.1",
"protein_id": "ENSP00000560189.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890130.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890131.1",
"protein_id": "ENSP00000560190.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890131.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890132.1",
"protein_id": "ENSP00000560191.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890132.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000890133.1",
"protein_id": "ENSP00000560192.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890133.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000923418.1",
"protein_id": "ENSP00000593477.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923418.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000923419.1",
"protein_id": "ENSP00000593478.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923419.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000923420.1",
"protein_id": "ENSP00000593479.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923420.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000923421.1",
"protein_id": "ENSP00000593480.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923421.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000965787.1",
"protein_id": "ENSP00000635846.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965787.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000965788.1",
"protein_id": "ENSP00000635847.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965788.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000965789.1",
"protein_id": "ENSP00000635848.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 226,
"cds_start": 649,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965789.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP6V1E2",
"gene_hgnc_id": 18125,
"hgvs_c": "c.649G>T",
"hgvs_p": "p.Gly217Cys",
"transcript": "ENST00000965790.1",
"protein_id": "ENSP00000635849.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
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}