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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: 1-47142179-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47142179&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYP4A22",
"hgnc_id": 20575,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001010969.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CYP4A22-AS1",
"hgnc_id": 43715,
"hgvs_c": "n.1114+30670T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_189276.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1187,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13687685132026672,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 519,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1560,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001010969.4",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371891.8",
"protein_coding": true,
"protein_id": "NP_001010969.2",
"strand": true,
"transcript": "NM_001010969.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 519,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1560,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000371891.8",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001010969.4",
"protein_coding": true,
"protein_id": "ENSP00000360958.3",
"strand": true,
"transcript": "ENST00000371891.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 455,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 485,
"cds_end": null,
"cds_length": 1368,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000294337.7",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000294337.3",
"strand": true,
"transcript": "ENST00000294337.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 357,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2351,
"cdna_start": 486,
"cds_end": null,
"cds_length": 1074,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000619754.4",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482952.1",
"strand": true,
"transcript": "ENST00000619754.4",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 525,
"aa_ref": "N",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 535,
"cds_end": null,
"cds_length": 1578,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856556.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Asn158Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526615.1",
"strand": true,
"transcript": "ENST00000856556.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 504,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1515,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856561.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Asn137Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526620.1",
"strand": true,
"transcript": "ENST00000856561.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 502,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1509,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856562.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526621.1",
"strand": true,
"transcript": "ENST00000856562.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 497,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2482,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1494,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856560.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526619.1",
"strand": true,
"transcript": "ENST00000856560.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 474,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2401,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1425,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856564.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526623.1",
"strand": true,
"transcript": "ENST00000856564.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 450,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 517,
"cds_end": null,
"cds_length": 1353,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856558.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526617.1",
"strand": true,
"transcript": "ENST00000856558.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 427,
"aa_ref": "N",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 515,
"cds_end": null,
"cds_length": 1284,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856565.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.472A>G",
"hgvs_p": "p.Asn158Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526624.1",
"strand": true,
"transcript": "ENST00000856565.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 421,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1266,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001437457.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424386.1",
"strand": true,
"transcript": "NM_001437457.1",
"transcript_support_level": null
},
{
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"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 490,
"cds_end": null,
"cds_length": 1266,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000371890.7",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360957.3",
"strand": true,
"transcript": "ENST00000371890.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
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"aa_length": 406,
"aa_ref": "N",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2202,
"cdna_start": 452,
"cds_end": null,
"cds_length": 1221,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000856563.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Asn137Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526622.1",
"strand": true,
"transcript": "ENST00000856563.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 389,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1170,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856559.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526618.1",
"strand": true,
"transcript": "ENST00000856559.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 359,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 521,
"cds_end": null,
"cds_length": 1080,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856557.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526616.1",
"strand": true,
"transcript": "ENST00000856557.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 357,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1074,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001308102.2",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295031.1",
"strand": true,
"transcript": "NM_001308102.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 333,
"aa_ref": "N",
"aa_start": 152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 499,
"cds_end": null,
"cds_length": 1002,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418181.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274137.1",
"strand": true,
"transcript": "XM_047418181.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 261,
"aa_ref": "N",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 922,
"cdna_start": 499,
"cds_end": null,
"cds_length": 786,
"cds_start": 454,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005270770.4",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Asn152Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005270827.1",
"strand": true,
"transcript": "XM_005270770.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000485117.1",
"gene_hgnc_id": 20575,
"gene_symbol": "CYP4A22",
"hgvs_c": "n.505A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000485117.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": null,
"cds_end": null,
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}