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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: 8-142876278-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=142876278&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 142876278,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000497.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "NM_000497.4",
"protein_id": "NP_000488.3",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 503,
"cds_start": 917,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292427.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000497.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "ENST00000292427.10",
"protein_id": "ENSP00000292427.5",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 503,
"cds_start": 917,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000497.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292427.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1130C>T",
"hgvs_p": "p.Ala377Val",
"transcript": "ENST00000377675.3",
"protein_id": "ENSP00000366903.3",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 574,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377675.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "ENST00000517471.5",
"protein_id": "ENSP00000428043.1",
"transcript_support_level": 1,
"aa_start": 306,
"aa_end": null,
"aa_length": 437,
"cds_start": 917,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517471.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Ala352Val",
"transcript": "ENST00000964974.1",
"protein_id": "ENSP00000635033.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 549,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964974.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Ala351Val",
"transcript": "ENST00000964956.1",
"protein_id": "ENSP00000635015.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 548,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964956.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Ala351Val",
"transcript": "ENST00000964968.1",
"protein_id": "ENSP00000635027.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 545,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964968.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "ENST00000964955.1",
"protein_id": "ENSP00000635014.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 529,
"cds_start": 995,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964955.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Ala351Val",
"transcript": "ENST00000964962.1",
"protein_id": "ENSP00000635021.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 505,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964962.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "ENST00000964970.1",
"protein_id": "ENSP00000635029.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 500,
"cds_start": 917,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964970.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "ENST00000964975.1",
"protein_id": "ENSP00000635034.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 497,
"cds_start": 917,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964975.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Ala352Val",
"transcript": "ENST00000964976.1",
"protein_id": "ENSP00000635035.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 483,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964976.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Ala351Val",
"transcript": "ENST00000964964.1",
"protein_id": "ENSP00000635023.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 482,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964964.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.827C>T",
"hgvs_p": "p.Ala276Val",
"transcript": "ENST00000964963.1",
"protein_id": "ENSP00000635022.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 473,
"cds_start": 827,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964963.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.821C>T",
"hgvs_p": "p.Ala274Val",
"transcript": "ENST00000964967.1",
"protein_id": "ENSP00000635026.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 471,
"cds_start": 821,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964967.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "ENST00000964960.1",
"protein_id": "ENSP00000635019.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 463,
"cds_start": 995,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964960.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "ENST00000964954.1",
"protein_id": "ENSP00000635013.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 460,
"cds_start": 917,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964954.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.782C>T",
"hgvs_p": "p.Ala261Val",
"transcript": "ENST00000964961.1",
"protein_id": "ENSP00000635020.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 458,
"cds_start": 782,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964961.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Ala254Val",
"transcript": "ENST00000964958.1",
"protein_id": "ENSP00000635017.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 451,
"cds_start": 761,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964958.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "NM_001026213.1",
"protein_id": "NP_001021384.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 437,
"cds_start": 917,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001026213.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.713C>T",
"hgvs_p": "p.Ala238Val",
"transcript": "ENST00000964971.1",
"protein_id": "ENSP00000635030.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 435,
"cds_start": 713,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964971.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP11B1",
"gene_hgnc_id": 2591,
"hgvs_c": "c.917C>T",
"hgvs_p": "p.Ala306Val",
"transcript": "ENST00000964965.1",
"protein_id": "ENSP00000635024.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 434,
"cds_start": 917,
"cds_end": null,
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"cdna_start": null,
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"splice_score_selected": 0.7099999785423279,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 16,
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"pathogenic_score": 16,
"criteria": [
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"PM2",
"PM5",
"PP2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000497.4",
"gene_symbol": "CYP11B1",
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"effects": [
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"inheritance_mode": "AD,AR",
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},
{
"score": 11,
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],
"verdict": "Pathogenic",
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],
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}
],
"clinvar_disease": "Congenital adrenal hyperplasia,Deficiency of steroid 11-beta-monooxygenase,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1 O:1",
"phenotype_combined": "Deficiency of steroid 11-beta-monooxygenase|not provided|Congenital adrenal hyperplasia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}