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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: 17-7001615-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7001615&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7001615,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000697.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOX12",
"gene_hgnc_id": 429,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.Asn322Ser",
"transcript": "NM_000697.3",
"protein_id": "NP_000688.2",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 663,
"cds_start": 965,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": "ENST00000251535.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000697.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOX12",
"gene_hgnc_id": 429,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.Asn322Ser",
"transcript": "ENST00000251535.11",
"protein_id": "ENSP00000251535.6",
"transcript_support_level": 1,
"aa_start": 322,
"aa_end": null,
"aa_length": 663,
"cds_start": 965,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": "NM_000697.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251535.11"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOX12",
"gene_hgnc_id": 429,
"hgvs_c": "c.965A>G",
"hgvs_p": "p.Asn322Ser",
"transcript": "ENST00000915595.1",
"protein_id": "ENSP00000585654.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 725,
"cds_start": 965,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915595.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALOX12",
"gene_hgnc_id": 429,
"hgvs_c": "c.758A>G",
"hgvs_p": "p.Asn253Ser",
"transcript": "XM_011523780.3",
"protein_id": "XP_011522082.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 594,
"cds_start": 758,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 2185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523780.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.1254T>C",
"hgvs_p": null,
"transcript": "ENST00000399540.3",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000399540.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.1285T>C",
"hgvs_p": null,
"transcript": "ENST00000654550.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000654550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.249+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000399541.7",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 681,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000399541.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.237+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000570562.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570562.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.287+869T>C",
"hgvs_p": null,
"transcript": "ENST00000571010.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 665,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000571010.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.233+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000572385.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000572385.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.451+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000572547.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 498,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000572547.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.446+869T>C",
"hgvs_p": null,
"transcript": "ENST00000574377.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 886,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000574377.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.385+869T>C",
"hgvs_p": null,
"transcript": "ENST00000575727.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000575727.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.216+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000575889.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 439,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000575889.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.139+10581T>C",
"hgvs_p": null,
"transcript": "ENST00000653385.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000653385.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.101+10581T>C",
"hgvs_p": null,
"transcript": "ENST00000659418.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1848,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000659418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.231+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000715686.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 697,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715686.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.370+869T>C",
"hgvs_p": null,
"transcript": "ENST00000715687.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 493,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715687.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.134+10581T>C",
"hgvs_p": null,
"transcript": "ENST00000772048.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1073,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772048.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.232+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000772049.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 669,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772049.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.248+8181T>C",
"hgvs_p": null,
"transcript": "ENST00000772050.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772050.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.144+10581T>C",
"hgvs_p": null,
"transcript": "ENST00000772051.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 728,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000772051.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MIR497HG",
"gene_hgnc_id": 39523,
"hgvs_c": "n.159+10581T>C",
"hgvs_p": null,
"transcript": "ENST00000772053.1",
"protein_id": null,
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"phenotype_combined": "not provided",
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}
],
"message": null
}