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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: 17-50460693-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=50460693&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 50460693,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001288968.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "NM_025149.6",
"protein_id": "NP_079425.3",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 615,
"cds_start": 145,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300441.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025149.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000300441.9",
"protein_id": "ENSP00000300441.4",
"transcript_support_level": 1,
"aa_start": 49,
"aa_end": null,
"aa_length": 615,
"cds_start": 145,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025149.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300441.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Arg74Ser",
"transcript": "NM_001288968.2",
"protein_id": "NP_001275897.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 640,
"cds_start": 220,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288968.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000427954.6",
"protein_id": "ENSP00000401831.2",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 640,
"cds_start": 220,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427954.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000942398.1",
"protein_id": "ENSP00000612457.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 640,
"cds_start": 145,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942398.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893271.1",
"protein_id": "ENSP00000563330.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 629,
"cds_start": 145,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893271.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893266.1",
"protein_id": "ENSP00000563325.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 625,
"cds_start": 145,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893266.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893265.1",
"protein_id": "ENSP00000563324.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 620,
"cds_start": 145,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893265.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.160C>A",
"hgvs_p": "p.Arg54Ser",
"transcript": "ENST00000942395.1",
"protein_id": "ENSP00000612454.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 620,
"cds_start": 160,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942395.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000942400.1",
"protein_id": "ENSP00000612459.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 619,
"cds_start": 145,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942400.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893272.1",
"protein_id": "ENSP00000563331.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 614,
"cds_start": 145,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893272.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000942397.1",
"protein_id": "ENSP00000612456.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 614,
"cds_start": 145,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942397.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000942399.1",
"protein_id": "ENSP00000612458.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 613,
"cds_start": 139,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942399.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.139C>A",
"hgvs_p": "p.Arg47Ser",
"transcript": "ENST00000942401.1",
"protein_id": "ENSP00000612460.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 612,
"cds_start": 139,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942401.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893268.1",
"protein_id": "ENSP00000563327.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 611,
"cds_start": 145,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893268.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893267.1",
"protein_id": "ENSP00000563326.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 605,
"cds_start": 145,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893267.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "NM_001288969.2",
"protein_id": "NP_001275898.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 602,
"cds_start": 145,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288969.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000502667.5",
"protein_id": "ENSP00000421884.1",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 602,
"cds_start": 145,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502667.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893269.1",
"protein_id": "ENSP00000563328.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 598,
"cds_start": 145,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893269.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893274.1",
"protein_id": "ENSP00000563333.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 597,
"cds_start": 145,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893274.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "ENST00000893273.1",
"protein_id": "ENSP00000563332.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 578,
"cds_start": 145,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893273.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "ACSF2",
"gene_hgnc_id": 26101,
"hgvs_c": "c.145C>A",
"hgvs_p": "p.Arg49Ser",
"transcript": "NM_001288970.2",
"protein_id": "NP_001275899.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 572,
"cds_start": 145,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288970.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
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