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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: 17-48849341-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48849341&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48849341,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001261390.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "NM_005831.5",
"protein_id": "NP_005822.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 446,
"cds_start": 507,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": "ENST00000258947.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005831.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000258947.8",
"protein_id": "ENSP00000258947.3",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 446,
"cds_start": 507,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 3635,
"mane_select": "NM_005831.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258947.8"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.579G>T",
"hgvs_p": "p.Gln193His",
"transcript": "NM_001261390.2",
"protein_id": "NP_001248319.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 470,
"cds_start": 579,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261390.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.579G>T",
"hgvs_p": "p.Gln193His",
"transcript": "ENST00000448105.7",
"protein_id": "ENSP00000398523.2",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 470,
"cds_start": 579,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 6691,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448105.7"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.570G>T",
"hgvs_p": "p.Gln190His",
"transcript": "NM_001261391.2",
"protein_id": "NP_001248320.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 467,
"cds_start": 570,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 624,
"cdna_end": null,
"cdna_length": 3698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261391.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.570G>T",
"hgvs_p": "p.Gln190His",
"transcript": "ENST00000509507.5",
"protein_id": "ENSP00000424352.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 467,
"cds_start": 570,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509507.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000866561.1",
"protein_id": "ENSP00000536620.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 452,
"cds_start": 507,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866561.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945215.1",
"protein_id": "ENSP00000615274.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 446,
"cds_start": 507,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945215.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945217.1",
"protein_id": "ENSP00000615276.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 446,
"cds_start": 507,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 3265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945217.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945221.1",
"protein_id": "ENSP00000615280.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 446,
"cds_start": 507,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945221.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945222.1",
"protein_id": "ENSP00000615281.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 446,
"cds_start": 507,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945222.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945218.1",
"protein_id": "ENSP00000615277.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 445,
"cds_start": 507,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945218.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945220.1",
"protein_id": "ENSP00000615279.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 444,
"cds_start": 507,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945220.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945216.1",
"protein_id": "ENSP00000615275.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 443,
"cds_start": 507,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 563,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945216.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000866560.1",
"protein_id": "ENSP00000536619.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 417,
"cds_start": 507,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866560.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000866566.1",
"protein_id": "ENSP00000536625.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 414,
"cds_start": 507,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866566.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000866565.1",
"protein_id": "ENSP00000536624.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 405,
"cds_start": 507,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866565.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000866562.1",
"protein_id": "ENSP00000536621.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 376,
"cds_start": 507,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866562.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.291G>T",
"hgvs_p": "p.Gln97His",
"transcript": "NM_001261395.2",
"protein_id": "NP_001248324.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 374,
"cds_start": 291,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261395.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.291G>T",
"hgvs_p": "p.Gln97His",
"transcript": "ENST00000508679.5",
"protein_id": "ENSP00000423437.1",
"transcript_support_level": 2,
"aa_start": 97,
"aa_end": null,
"aa_length": 374,
"cds_start": 291,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508679.5"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.507G>T",
"hgvs_p": "p.Gln169His",
"transcript": "ENST00000945219.1",
"protein_id": "ENSP00000615278.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 344,
"cds_start": 507,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945219.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALCOCO2",
"gene_hgnc_id": 29912,
"hgvs_c": "c.291G>T",
"hgvs_p": "p.Gln97His",
"transcript": "ENST00000513119.5",
"protein_id": "ENSP00000425090.1",
"transcript_support_level": 5,
"aa_start": 97,
"aa_end": null,
"aa_length": 258,
"cds_start": 291,
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"phylop100way_prediction": "Benign",
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{
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"BP4"
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"verdict": "Uncertain_significance",
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{
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"BP4"
],
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}