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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: 7-92076911-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=92076911&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 92076911,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000356239.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6669T>C",
"hgvs_p": "p.Asn2223Asn",
"transcript": "NM_005751.5",
"protein_id": "NP_005742.4",
"transcript_support_level": null,
"aa_start": 2223,
"aa_end": null,
"aa_length": 3907,
"cds_start": 6669,
"cds_end": null,
"cds_length": 11724,
"cdna_start": 6907,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "ENST00000356239.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6669T>C",
"hgvs_p": "p.Asn2223Asn",
"transcript": "ENST00000356239.8",
"protein_id": "ENSP00000348573.3",
"transcript_support_level": 1,
"aa_start": 2223,
"aa_end": null,
"aa_length": 3907,
"cds_start": 6669,
"cds_end": null,
"cds_length": 11724,
"cdna_start": 6907,
"cdna_end": null,
"cdna_length": 12476,
"mane_select": "NM_005751.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Asn438Asn",
"transcript": "ENST00000491695.2",
"protein_id": "ENSP00000494626.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 2122,
"cds_start": 1314,
"cds_end": null,
"cds_length": 6369,
"cdna_start": 1857,
"cdna_end": null,
"cdna_length": 7413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.162T>C",
"hgvs_p": "p.Asn54Asn",
"transcript": "ENST00000394534.7",
"protein_id": "ENSP00000378042.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 1571,
"cds_start": 162,
"cds_end": null,
"cds_length": 4716,
"cdna_start": 162,
"cdna_end": null,
"cdna_length": 5149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6741T>C",
"hgvs_p": "p.Asn2247Asn",
"transcript": "ENST00000359028.7",
"protein_id": "ENSP00000351922.4",
"transcript_support_level": 5,
"aa_start": 2247,
"aa_end": null,
"aa_length": 3931,
"cds_start": 6741,
"cds_end": null,
"cds_length": 11796,
"cdna_start": 6741,
"cdna_end": null,
"cdna_length": 12219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6669T>C",
"hgvs_p": "p.Asn2223Asn",
"transcript": "ENST00000681412.1",
"protein_id": "ENSP00000506486.1",
"transcript_support_level": null,
"aa_start": 2223,
"aa_end": null,
"aa_length": 3923,
"cds_start": 6669,
"cds_end": null,
"cds_length": 11772,
"cdna_start": 6891,
"cdna_end": null,
"cdna_length": 13915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6708T>C",
"hgvs_p": "p.Asn2236Asn",
"transcript": "ENST00000680534.1",
"protein_id": "ENSP00000506674.1",
"transcript_support_level": null,
"aa_start": 2236,
"aa_end": null,
"aa_length": 3920,
"cds_start": 6708,
"cds_end": null,
"cds_length": 11763,
"cdna_start": 6968,
"cdna_end": null,
"cdna_length": 12537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6645T>C",
"hgvs_p": "p.Asn2215Asn",
"transcript": "ENST00000681722.1",
"protein_id": "ENSP00000506566.1",
"transcript_support_level": null,
"aa_start": 2215,
"aa_end": null,
"aa_length": 3915,
"cds_start": 6645,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 6883,
"cdna_end": null,
"cdna_length": 12328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6645T>C",
"hgvs_p": "p.Asn2215Asn",
"transcript": "NM_147185.3",
"protein_id": "NP_671714.1",
"transcript_support_level": null,
"aa_start": 2215,
"aa_end": null,
"aa_length": 3899,
"cds_start": 6645,
"cds_end": null,
"cds_length": 11700,
"cdna_start": 6883,
"cdna_end": null,
"cdna_length": 12452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6645T>C",
"hgvs_p": "p.Asn2215Asn",
"transcript": "ENST00000680766.1",
"protein_id": "ENSP00000505204.1",
"transcript_support_level": null,
"aa_start": 2215,
"aa_end": null,
"aa_length": 3899,
"cds_start": 6645,
"cds_end": null,
"cds_length": 11700,
"cdna_start": 6867,
"cdna_end": null,
"cdna_length": 12423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6615T>C",
"hgvs_p": "p.Asn2205Asn",
"transcript": "ENST00000679521.1",
"protein_id": "ENSP00000505456.1",
"transcript_support_level": null,
"aa_start": 2205,
"aa_end": null,
"aa_length": 3889,
"cds_start": 6615,
"cds_end": null,
"cds_length": 11670,
"cdna_start": 6853,
"cdna_end": null,
"cdna_length": 12422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6576T>C",
"hgvs_p": "p.Asn2192Asn",
"transcript": "ENST00000680181.1",
"protein_id": "ENSP00000505548.1",
"transcript_support_level": null,
"aa_start": 2192,
"aa_end": null,
"aa_length": 3876,
"cds_start": 6576,
"cds_end": null,
"cds_length": 11631,
"cdna_start": 6814,
"cdna_end": null,
"cdna_length": 12370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6528T>C",
"hgvs_p": "p.Asn2176Asn",
"transcript": "ENST00000680513.1",
"protein_id": "ENSP00000505284.1",
"transcript_support_level": null,
"aa_start": 2176,
"aa_end": null,
"aa_length": 3860,
"cds_start": 6528,
"cds_end": null,
"cds_length": 11583,
"cdna_start": 6788,
"cdna_end": null,
"cdna_length": 12357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6492T>C",
"hgvs_p": "p.Asn2164Asn",
"transcript": "ENST00000680072.1",
"protein_id": "ENSP00000506581.1",
"transcript_support_level": null,
"aa_start": 2164,
"aa_end": null,
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"cds_start": 6492,
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"cdna_start": 6752,
"cdna_end": null,
"cdna_length": 12321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6645T>C",
"hgvs_p": "p.Asn2215Asn",
"transcript": "ENST00000680952.1",
"protein_id": "ENSP00000506407.1",
"transcript_support_level": null,
"aa_start": 2215,
"aa_end": null,
"aa_length": 3827,
"cds_start": 6645,
"cds_end": null,
"cds_length": 11484,
"cdna_start": 6867,
"cdna_end": null,
"cdna_length": 12118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.6411T>C",
"hgvs_p": "p.Asn2137Asn",
"transcript": "ENST00000679821.1",
"protein_id": "ENSP00000506040.1",
"transcript_support_level": null,
"aa_start": 2137,
"aa_end": null,
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"cds_start": 6411,
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"cdna_start": 6651,
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"cdna_length": 12207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "c.1314T>C",
"hgvs_p": "p.Asn438Asn",
"transcript": "NM_001379277.1",
"protein_id": "NP_001366206.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 2122,
"cds_start": 1314,
"cds_end": null,
"cds_length": 6369,
"cdna_start": 1905,
"cdna_end": null,
"cdna_length": 7474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*6398T>C",
"hgvs_p": null,
"transcript": "ENST00000674381.2",
"protein_id": "ENSP00000501536.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 8366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6645T>C",
"hgvs_p": null,
"transcript": "ENST00000679448.1",
"protein_id": "ENSP00000505889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6645T>C",
"hgvs_p": null,
"transcript": "ENST00000679457.1",
"protein_id": "ENSP00000505450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.6867T>C",
"hgvs_p": null,
"transcript": "ENST00000679474.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"hgvs_c": "n.*6454T>C",
"hgvs_p": null,
"transcript": "ENST00000679554.1",
"protein_id": "ENSP00000506415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP9",
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"hgvs_c": "n.6891T>C",
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{
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},
{
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},
{
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},
{
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"consequences": [
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],
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},
{
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"gene_symbol": "AKAP9",
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"hgvs_c": "n.*6454T>C",
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"transcript": "ENST00000679554.1",
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}
],
"gene_symbol": "AKAP9",
"gene_hgnc_id": 379,
"dbsnp": "rs551316515",
"frequency_reference_population": 0.00001239979,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000108683,
"gnomad_genomes_af": 0.0000262954,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5899999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.27,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000356239.8",
"gene_symbol": "AKAP9",
"hgnc_id": 379,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.6669T>C",
"hgvs_p": "p.Asn2223Asn"
}
],
"clinvar_disease": "Cardiovascular phenotype,Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Long QT syndrome|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}