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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: 13-51942481-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51942481&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Val1106Asp",
"inheritance_mode": "AR",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_000053.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_score": 16,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.9912,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "13",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Wilson disease,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:4 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9906907677650452,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6598,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_000053.4",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Val1106Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000242839.10",
"protein_coding": true,
"protein_id": "NP_000044.2",
"strand": false,
"transcript": "NM_000053.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6598,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000242839.10",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Val1106Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000053.4",
"protein_coding": true,
"protein_id": "ENSP00000242839.5",
"strand": false,
"transcript": "ENST00000242839.10",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "V",
"aa_start": 1058,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 3247,
"cds_end": null,
"cds_length": 4254,
"cds_start": 3173,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000634844.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3173T>A",
"hgvs_p": "p.Val1058Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489398.1",
"strand": false,
"transcript": "ENST00000634844.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "V",
"aa_start": 1041,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 3196,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3122,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000418097.7",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3122T>A",
"hgvs_p": "p.Val1041Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393343.2",
"strand": false,
"transcript": "ENST00000418097.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "V",
"aa_start": 1022,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6451,
"cdna_start": 3318,
"cds_end": null,
"cds_length": 4146,
"cds_start": 3065,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000448424.7",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3065T>A",
"hgvs_p": "p.Val1022Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416738.3",
"strand": false,
"transcript": "ENST00000448424.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "V",
"aa_start": 995,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 4065,
"cds_start": 2984,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000400366.6",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.2984T>A",
"hgvs_p": "p.Val995Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383217.3",
"strand": false,
"transcript": "ENST00000400366.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "V",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 2101,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000400370.8",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.2027T>A",
"hgvs_p": "p.Val676Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383221.3",
"strand": false,
"transcript": "ENST00000400370.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000634308.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*418T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489234.1",
"strand": false,
"transcript": "ENST00000634308.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000634620.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.4061T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000634620.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5825,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000634810.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.2662T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000634810.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000634308.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "n.*418T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489234.1",
"strand": false,
"transcript": "ENST00000634308.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6652,
"cdna_start": 3484,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001406511.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Val1106Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393440.1",
"strand": false,
"transcript": "NM_001406511.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6891,
"cdna_start": 3723,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001406512.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Val1106Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393441.1",
"strand": false,
"transcript": "NM_001406512.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6686,
"cdna_start": 3518,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873567.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Val1106Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543626.1",
"strand": false,
"transcript": "ENST00000873567.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "V",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6961,
"cdna_start": 3799,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3317,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000911501.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3317T>A",
"hgvs_p": "p.Val1106Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581560.1",
"strand": false,
"transcript": "ENST00000911501.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "V",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6646,
"cdna_start": 3478,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001406513.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3311T>A",
"hgvs_p": "p.Val1104Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393442.1",
"strand": false,
"transcript": "NM_001406513.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "V",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7271,
"cdna_start": 4103,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873569.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3311T>A",
"hgvs_p": "p.Val1104Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543628.1",
"strand": false,
"transcript": "ENST00000873569.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "V",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": 3486,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873570.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3311T>A",
"hgvs_p": "p.Val1104Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543629.1",
"strand": false,
"transcript": "ENST00000873570.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "V",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6565,
"cdna_start": 3397,
"cds_end": null,
"cds_length": 4365,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001406514.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3284T>A",
"hgvs_p": "p.Val1095Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393443.1",
"strand": false,
"transcript": "NM_001406514.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "V",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6544,
"cdna_start": 3376,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3263,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001406515.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3263T>A",
"hgvs_p": "p.Val1088Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393444.1",
"strand": false,
"transcript": "NM_001406515.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "V",
"aa_start": 1088,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": 3669,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3263,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 16,
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]
}