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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: 13-51942474-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51942474&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ATP7B",
"hgnc_id": 870,
"hgvs_c": "c.3324C>T",
"hgvs_p": "p.Asn1108Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_000053.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 565,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "13",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Wilson disease,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.47999998927116394,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "N",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6598,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3324,
"consequences": [
"synonymous_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.3324C>T",
"hgvs_p": "p.Asn1108Asn",
"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": "N",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "N",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6598,
"cdna_start": 3437,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3324,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000242839.10",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3324C>T",
"hgvs_p": "p.Asn1108Asn",
"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": "N",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "N",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4398,
"cdna_start": 3254,
"cds_end": null,
"cds_length": 4254,
"cds_start": 3180,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000634844.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3180C>T",
"hgvs_p": "p.Asn1060Asn",
"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": "N",
"aa_end": null,
"aa_length": 1400,
"aa_ref": "N",
"aa_start": 1043,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4340,
"cdna_start": 3203,
"cds_end": null,
"cds_length": 4203,
"cds_start": 3129,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000418097.7",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3129C>T",
"hgvs_p": "p.Asn1043Asn",
"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": "N",
"aa_end": null,
"aa_length": 1381,
"aa_ref": "N",
"aa_start": 1024,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6451,
"cdna_start": 3325,
"cds_end": null,
"cds_length": 4146,
"cds_start": 3072,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000448424.7",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3072C>T",
"hgvs_p": "p.Asn1024Asn",
"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": "N",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "N",
"aa_start": 997,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 2991,
"cds_end": null,
"cds_length": 4065,
"cds_start": 2991,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000400366.6",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.2991C>T",
"hgvs_p": "p.Asn997Asn",
"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": "N",
"aa_end": null,
"aa_length": 1035,
"aa_ref": "N",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 3108,
"cds_start": 2034,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000400370.8",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.2034C>T",
"hgvs_p": "p.Asn678Asn",
"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.*425C>T",
"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.4068C>T",
"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.2669C>T",
"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.*425C>T",
"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": "N",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "N",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6652,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3324,
"consequences": [
"synonymous_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.3324C>T",
"hgvs_p": "p.Asn1108Asn",
"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": "N",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "N",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6891,
"cdna_start": 3730,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3324,
"consequences": [
"synonymous_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.3324C>T",
"hgvs_p": "p.Asn1108Asn",
"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": "N",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "N",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6686,
"cdna_start": 3525,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3324,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873567.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3324C>T",
"hgvs_p": "p.Asn1108Asn",
"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": "N",
"aa_end": null,
"aa_length": 1465,
"aa_ref": "N",
"aa_start": 1108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6961,
"cdna_start": 3806,
"cds_end": null,
"cds_length": 4398,
"cds_start": 3324,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000911501.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3324C>T",
"hgvs_p": "p.Asn1108Asn",
"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": "N",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "N",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6646,
"cdna_start": 3485,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3318,
"consequences": [
"synonymous_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.3318C>T",
"hgvs_p": "p.Asn1106Asn",
"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": "N",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "N",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7271,
"cdna_start": 4110,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3318,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000873569.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3318C>T",
"hgvs_p": "p.Asn1106Asn",
"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": "N",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "N",
"aa_start": 1106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": 3493,
"cds_end": null,
"cds_length": 4392,
"cds_start": 3318,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000873570.1",
"gene_hgnc_id": 870,
"gene_symbol": "ATP7B",
"hgvs_c": "c.3318C>T",
"hgvs_p": "p.Asn1106Asn",
"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": "N",
"aa_end": null,
"aa_length": 1454,
"aa_ref": "N",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6565,
"cdna_start": 3404,
"cds_end": null,
"cds_length": 4365,
"cds_start": 3291,
"consequences": [
"synonymous_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.3291C>T",
"hgvs_p": "p.Asn1097Asn",
"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": "N",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "N",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6544,
"cdna_start": 3383,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3270,
"consequences": [
"synonymous_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.3270C>T",
"hgvs_p": "p.Asn1090Asn",
"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": "N",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "N",
"aa_start": 1090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6837,
"cdna_start": 3676,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3270,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
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"protein_id": "ENSP00000501045.2",
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"transcript": "ENST00000673864.2",
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}
],
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"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Wilson disease|Inborn genetic diseases|not provided|not specified",
"phylop100way_prediction": "Benign",
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"splice_source_selected": "max_spliceai",
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}
]
}