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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: 10-45616480-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=45616480&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 45616480,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_174890.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "NM_174890.4",
"protein_id": "NP_777550.2",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000344646.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174890.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "ENST00000344646.10",
"protein_id": "ENSP00000339484.5",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174890.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344646.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Glu640Lys",
"transcript": "ENST00000374366.7",
"protein_id": "ENSP00000363486.3",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 653,
"cds_start": 1918,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374366.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2158G>A",
"hgvs_p": "p.Glu720Lys",
"transcript": "ENST00000947494.1",
"protein_id": "ENSP00000617553.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 733,
"cds_start": 2158,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947494.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "NM_001128324.2",
"protein_id": "NP_001121796.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128324.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "ENST00000907319.1",
"protein_id": "ENSP00000577378.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907319.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "ENST00000907320.1",
"protein_id": "ENSP00000577379.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907320.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "ENST00000907323.1",
"protein_id": "ENSP00000577382.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907323.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "ENST00000940116.1",
"protein_id": "ENSP00000610175.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940116.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2140G>A",
"hgvs_p": "p.Glu714Lys",
"transcript": "ENST00000940117.1",
"protein_id": "ENSP00000610176.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 727,
"cds_start": 2140,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940117.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000907321.1",
"protein_id": "ENSP00000577380.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 679,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907321.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000907322.1",
"protein_id": "ENSP00000577381.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 679,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907322.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000940115.1",
"protein_id": "ENSP00000610174.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 679,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940115.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000940118.1",
"protein_id": "ENSP00000610177.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 679,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940118.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1996G>A",
"hgvs_p": "p.Glu666Lys",
"transcript": "ENST00000940119.1",
"protein_id": "ENSP00000610178.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 679,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940119.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Glu640Lys",
"transcript": "NM_001282905.1",
"protein_id": "NP_001269834.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 653,
"cds_start": 1918,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282905.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.1918G>A",
"hgvs_p": "p.Glu640Lys",
"transcript": "NM_001282906.1",
"protein_id": "NP_001269835.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 653,
"cds_start": 1918,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282906.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Glu329Lys",
"transcript": "ENST00000947495.1",
"protein_id": "ENSP00000617554.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 342,
"cds_start": 985,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947495.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2326G>A",
"hgvs_p": "p.Glu776Lys",
"transcript": "XM_047426008.1",
"protein_id": "XP_047281964.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 789,
"cds_start": 2326,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426008.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2308G>A",
"hgvs_p": "p.Glu770Lys",
"transcript": "XM_047426009.1",
"protein_id": "XP_047281965.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 783,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426009.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2182G>A",
"hgvs_p": "p.Glu728Lys",
"transcript": "XM_017016931.2",
"protein_id": "XP_016872420.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 741,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016931.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFAND4",
"gene_hgnc_id": 23504,
"hgvs_c": "c.2164G>A",
"hgvs_p": "p.Glu722Lys",
"transcript": "XM_011540366.3",
"protein_id": "XP_011538668.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 735,
"cds_start": 2164,
"cds_end": null,
"cds_length": 2208,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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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
}