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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: 1-196747131-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196747131&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196747131,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_000186.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3514G>T",
"hgvs_p": "p.Glu1172*",
"transcript": "NM_000186.4",
"protein_id": "NP_000177.2",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3514,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367429.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000186.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3514G>T",
"hgvs_p": "p.Glu1172*",
"transcript": "ENST00000367429.9",
"protein_id": "ENSP00000356399.4",
"transcript_support_level": 1,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3514,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000186.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367429.9"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289697",
"gene_hgnc_id": null,
"hgvs_c": "c.3514G>T",
"hgvs_p": "p.Glu1172*",
"transcript": "ENST00000696032.1",
"protein_id": "ENSP00000512341.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1504,
"cds_start": 3514,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696032.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "n.6612G>T",
"hgvs_p": null,
"transcript": "ENST00000466229.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466229.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3508G>T",
"hgvs_p": "p.Glu1170*",
"transcript": "ENST00000696027.1",
"protein_id": "ENSP00000512336.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3508,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696027.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3508G>T",
"hgvs_p": "p.Glu1170*",
"transcript": "ENST00000696029.1",
"protein_id": "ENSP00000512338.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1229,
"cds_start": 3508,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696029.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3493G>T",
"hgvs_p": "p.Glu1165*",
"transcript": "ENST00000695971.1",
"protein_id": "ENSP00000512298.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695971.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3493G>T",
"hgvs_p": "p.Glu1165*",
"transcript": "ENST00000883403.1",
"protein_id": "ENSP00000553462.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3493,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883403.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3487G>T",
"hgvs_p": "p.Glu1163*",
"transcript": "ENST00000883411.1",
"protein_id": "ENSP00000553470.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1222,
"cds_start": 3487,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883411.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3445G>T",
"hgvs_p": "p.Glu1149*",
"transcript": "ENST00000883397.1",
"protein_id": "ENSP00000553456.1",
"transcript_support_level": null,
"aa_start": 1149,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3445,
"cds_end": null,
"cds_length": 3627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883397.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3442G>T",
"hgvs_p": "p.Glu1148*",
"transcript": "ENST00000696028.1",
"protein_id": "ENSP00000512337.1",
"transcript_support_level": null,
"aa_start": 1148,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3442,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696028.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3514G>T",
"hgvs_p": "p.Glu1172*",
"transcript": "ENST00000695981.1",
"protein_id": "ENSP00000512306.1",
"transcript_support_level": null,
"aa_start": 1172,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3514,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695981.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3400G>T",
"hgvs_p": "p.Glu1134*",
"transcript": "ENST00000955310.1",
"protein_id": "ENSP00000625368.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1193,
"cds_start": 3400,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955310.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3340G>T",
"hgvs_p": "p.Glu1114*",
"transcript": "ENST00000695970.1",
"protein_id": "ENSP00000512297.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3340,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695970.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3337G>T",
"hgvs_p": "p.Glu1113*",
"transcript": "ENST00000695974.1",
"protein_id": "ENSP00000512301.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1172,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695974.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3331G>T",
"hgvs_p": "p.Glu1111*",
"transcript": "ENST00000883399.1",
"protein_id": "ENSP00000553458.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883399.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3331G>T",
"hgvs_p": "p.Glu1111*",
"transcript": "ENST00000883412.1",
"protein_id": "ENSP00000553471.1",
"transcript_support_level": null,
"aa_start": 1111,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3331,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883412.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3325G>T",
"hgvs_p": "p.Glu1109*",
"transcript": "ENST00000695976.1",
"protein_id": "ENSP00000512303.1",
"transcript_support_level": null,
"aa_start": 1109,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3325,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695976.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3319G>T",
"hgvs_p": "p.Glu1107*",
"transcript": "ENST00000955307.1",
"protein_id": "ENSP00000625366.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3319,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955307.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3163G>T",
"hgvs_p": "p.Glu1055*",
"transcript": "ENST00000883414.1",
"protein_id": "ENSP00000553473.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1114,
"cds_start": 3163,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883414.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.3154G>T",
"hgvs_p": "p.Glu1052*",
"transcript": "ENST00000883407.1",
"protein_id": "ENSP00000553466.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1111,
"cds_start": 3154,
"cds_end": null,
"cds_length": 3336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883407.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.2974G>T",
"hgvs_p": "p.Glu992*",
"transcript": "ENST00000955308.1",
"protein_id": "ENSP00000625367.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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{
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"criteria": [
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"PM2",
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"verdict": "Pathogenic",
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"effects": [
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{
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"verdict": "Pathogenic",
"transcript": "ENST00000696032.1",
"gene_symbol": "ENSG00000289697",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": " 1, atypical, susceptibility to,Hemolytic uremic syndrome",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hemolytic uremic syndrome, atypical, susceptibility to, 1",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}