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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: 13-51935019-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=51935019&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 51935019,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000242839.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4135C>T",
"hgvs_p": "p.Pro1379Ser",
"transcript": "NM_000053.4",
"protein_id": "NP_000044.2",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4248,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "ENST00000242839.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4135C>T",
"hgvs_p": "p.Pro1379Ser",
"transcript": "ENST00000242839.10",
"protein_id": "ENSP00000242839.5",
"transcript_support_level": 1,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4248,
"cdna_end": null,
"cdna_length": 6598,
"mane_select": "NM_000053.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3991C>T",
"hgvs_p": "p.Pro1331Ser",
"transcript": "ENST00000634844.1",
"protein_id": "ENSP00000489398.1",
"transcript_support_level": 1,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4065,
"cdna_end": null,
"cdna_length": 4398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3940C>T",
"hgvs_p": "p.Pro1314Ser",
"transcript": "ENST00000418097.7",
"protein_id": "ENSP00000393343.2",
"transcript_support_level": 1,
"aa_start": 1314,
"aa_end": null,
"aa_length": 1400,
"cds_start": 3940,
"cds_end": null,
"cds_length": 4203,
"cdna_start": 4014,
"cdna_end": null,
"cdna_length": 4340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3883C>T",
"hgvs_p": "p.Pro1295Ser",
"transcript": "ENST00000448424.7",
"protein_id": "ENSP00000416738.3",
"transcript_support_level": 1,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1381,
"cds_start": 3883,
"cds_end": null,
"cds_length": 4146,
"cdna_start": 4136,
"cdna_end": null,
"cdna_length": 6451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3802C>T",
"hgvs_p": "p.Pro1268Ser",
"transcript": "ENST00000400366.6",
"protein_id": "ENSP00000383217.3",
"transcript_support_level": 1,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3802,
"cds_end": null,
"cds_length": 4065,
"cdna_start": 3802,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.2845C>T",
"hgvs_p": "p.Pro949Ser",
"transcript": "ENST00000400370.8",
"protein_id": "ENSP00000383221.3",
"transcript_support_level": 1,
"aa_start": 949,
"aa_end": null,
"aa_length": 1035,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3108,
"cdna_start": 2919,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1236C>T",
"hgvs_p": null,
"transcript": "ENST00000634308.1",
"protein_id": "ENSP00000489234.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.4879C>T",
"hgvs_p": null,
"transcript": "ENST00000634620.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.3480C>T",
"hgvs_p": null,
"transcript": "ENST00000634810.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "n.*1236C>T",
"hgvs_p": null,
"transcript": "ENST00000634308.1",
"protein_id": "ENSP00000489234.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4135C>T",
"hgvs_p": "p.Pro1379Ser",
"transcript": "NM_001406511.1",
"protein_id": "NP_001393440.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4302,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4135C>T",
"hgvs_p": "p.Pro1379Ser",
"transcript": "NM_001406512.1",
"protein_id": "NP_001393441.1",
"transcript_support_level": null,
"aa_start": 1379,
"aa_end": null,
"aa_length": 1465,
"cds_start": 4135,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 4541,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4129C>T",
"hgvs_p": "p.Pro1377Ser",
"transcript": "NM_001406513.1",
"protein_id": "NP_001393442.1",
"transcript_support_level": null,
"aa_start": 1377,
"aa_end": null,
"aa_length": 1463,
"cds_start": 4129,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 6646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4102C>T",
"hgvs_p": "p.Pro1368Ser",
"transcript": "NM_001406514.1",
"protein_id": "NP_001393443.1",
"transcript_support_level": null,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1454,
"cds_start": 4102,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 4215,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4081C>T",
"hgvs_p": "p.Pro1361Ser",
"transcript": "NM_001406515.1",
"protein_id": "NP_001393444.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4081,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4194,
"cdna_end": null,
"cdna_length": 6544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4081C>T",
"hgvs_p": "p.Pro1361Ser",
"transcript": "NM_001406516.1",
"protein_id": "NP_001393445.1",
"transcript_support_level": null,
"aa_start": 1361,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4081,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 6837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4039C>T",
"hgvs_p": "p.Pro1347Ser",
"transcript": "NM_001406517.1",
"protein_id": "NP_001393446.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4039,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4152,
"cdna_end": null,
"cdna_length": 6502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4039C>T",
"hgvs_p": "p.Pro1347Ser",
"transcript": "NM_001406518.1",
"protein_id": "NP_001393447.1",
"transcript_support_level": null,
"aa_start": 1347,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4039,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4339,
"cdna_end": null,
"cdna_length": 6689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.4000C>T",
"hgvs_p": "p.Pro1334Ser",
"transcript": "NM_001406519.1",
"protein_id": "NP_001393448.1",
"transcript_support_level": null,
"aa_start": 1334,
"aa_end": null,
"aa_length": 1420,
"cds_start": 4000,
"cds_end": null,
"cds_length": 4263,
"cdna_start": 4113,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3991C>T",
"hgvs_p": "p.Pro1331Ser",
"transcript": "NM_001406520.1",
"protein_id": "NP_001393449.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4104,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
"gene_hgnc_id": 870,
"hgvs_c": "c.3991C>T",
"hgvs_p": "p.Pro1331Ser",
"transcript": "NM_001406521.1",
"protein_id": "NP_001393450.1",
"transcript_support_level": null,
"aa_start": 1331,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3991,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 4158,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP7B",
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],
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"computational_score_selected": 0.0551791787147522,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.999,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
"benign_score": 8,
"pathogenic_score": 3,
"criteria": [
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"PP2",
"BP4_Strong",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000242839.10",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "ATP7B-related disorder,Inborn genetic diseases,See cases,Wilson disease,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:15 LB:2",
"phenotype_combined": "not specified|Wilson disease|not provided|Inborn genetic diseases|See cases|ATP7B-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}