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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: 17-68250275-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68250275&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 68250275,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000359904.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_016627.5",
"protein_id": "NP_057711.3",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": "ENST00000359904.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "ENST00000359904.8",
"protein_id": "ENSP00000352976.3",
"transcript_support_level": 2,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 751,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": "NM_016627.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "ENST00000392720.6",
"protein_id": "ENSP00000376481.2",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "ENST00000577985.5",
"protein_id": "ENSP00000464635.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "ENST00000612294.4",
"protein_id": "ENSP00000483162.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001033569.2",
"protein_id": "NP_001028741.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001033570.2",
"protein_id": "NP_001028742.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001033571.1",
"protein_id": "NP_001028743.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001033572.1",
"protein_id": "NP_001028744.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001289054.2",
"protein_id": "NP_001275983.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 1359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001289056.2",
"protein_id": "NP_001275985.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346471.1",
"protein_id": "NP_001333400.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346472.1",
"protein_id": "NP_001333401.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346473.1",
"protein_id": "NP_001333402.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
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"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346474.2",
"protein_id": "NP_001333403.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 1627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346475.2",
"protein_id": "NP_001333404.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
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"cdna_start": 442,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346476.2",
"protein_id": "NP_001333405.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 182,
"cdna_end": null,
"cdna_length": 1363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346477.2",
"protein_id": "NP_001333406.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346478.2",
"protein_id": "NP_001333407.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
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"cdna_start": 222,
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"cdna_length": 1403,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "NM_001346479.2",
"protein_id": "NP_001333408.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 274,
"cdna_end": null,
"cdna_length": 1455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "ENST00000577866.5",
"protein_id": "ENSP00000464133.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
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"cdna_start": 376,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "ENST00000580753.5",
"protein_id": "ENSP00000463012.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 360,
"cds_start": 88,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 1339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AMZ2",
"gene_hgnc_id": 28041,
"hgvs_c": "c.88A>C",
"hgvs_p": "p.Asn30His",
"transcript": "ENST00000674770.2",
"protein_id": "ENSP00000501934.1",
"transcript_support_level": null,
"aa_start": 30,
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{
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{
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}
],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000359904.8",
"gene_symbol": "AMZ2",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}