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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: 2-85551967-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85551967&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GGCX",
"hgnc_id": 4247,
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"inheritance_mode": "AR,AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_000821.7",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PP3_Strong,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": 0.9189,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": " combined deficiency of, type 1,Vitamin K-dependent clotting factors,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9672863483428955,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7556,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000821.7",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000233838.9",
"protein_coding": true,
"protein_id": "NP_000812.2",
"strand": false,
"transcript": "NM_000821.7",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 758,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7556,
"cdna_start": 1519,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000233838.9",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000821.7",
"protein_coding": true,
"protein_id": "ENSP00000233838.3",
"strand": false,
"transcript": "ENST00000233838.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 768,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6364,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000911478.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581537.1",
"strand": false,
"transcript": "ENST00000911478.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3982,
"cdna_start": 1845,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896458.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566517.1",
"strand": false,
"transcript": "ENST00000896458.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 754,
"aa_ref": "R",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2868,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1442,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942085.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1442G>C",
"hgvs_p": "p.Arg481Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612144.1",
"strand": false,
"transcript": "ENST00000942085.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 735,
"aa_ref": "R",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1385,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000689276.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1385G>C",
"hgvs_p": "p.Arg462Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510012.1",
"strand": false,
"transcript": "ENST00000689276.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 735,
"aa_ref": "R",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1385,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000896463.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1385G>C",
"hgvs_p": "p.Arg462Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566522.1",
"strand": false,
"transcript": "ENST00000896463.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 712,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 2139,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000942081.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1454G>C",
"hgvs_p": "p.Arg485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612140.1",
"strand": false,
"transcript": "ENST00000942081.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 705,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896461.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1283G>C",
"hgvs_p": "p.Arg428Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566520.1",
"strand": false,
"transcript": "ENST00000896461.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7385,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001142269.4",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1283G>C",
"hgvs_p": "p.Arg428Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135741.1",
"strand": false,
"transcript": "NM_001142269.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 701,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 2106,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000430215.7",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1283G>C",
"hgvs_p": "p.Arg428Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408045.3",
"strand": false,
"transcript": "ENST00000430215.7",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 699,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896459.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1283G>C",
"hgvs_p": "p.Arg428Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566518.1",
"strand": false,
"transcript": "ENST00000896459.1",
"transcript_support_level": null
},
{
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"aa_length": 697,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2733,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942083.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1271G>C",
"hgvs_p": "p.Arg424Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612142.1",
"strand": false,
"transcript": "ENST00000942083.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 678,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896465.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1214G>C",
"hgvs_p": "p.Arg405Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566524.1",
"strand": false,
"transcript": "ENST00000896465.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 666,
"aa_ref": "R",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1184,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000896464.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1184G>C",
"hgvs_p": "p.Arg395Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566523.1",
"strand": false,
"transcript": "ENST00000896464.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 655,
"aa_ref": "R",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1283,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000942084.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.1283G>C",
"hgvs_p": "p.Arg428Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612143.1",
"strand": false,
"transcript": "ENST00000942084.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 586,
"aa_ref": "R",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1761,
"cds_start": 938,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896462.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.938G>C",
"hgvs_p": "p.Arg313Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566521.1",
"strand": false,
"transcript": "ENST00000896462.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 852,
"cds_end": null,
"cds_length": 1602,
"cds_start": 779,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000690595.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508979.1",
"strand": false,
"transcript": "ENST00000690595.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 944,
"cds_end": null,
"cds_length": 1593,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000693287.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.770G>C",
"hgvs_p": "p.Arg257Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510264.1",
"strand": false,
"transcript": "ENST00000693287.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 529,
"aa_ref": "R",
"aa_start": 256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2530,
"cdna_start": 862,
"cds_end": null,
"cds_length": 1590,
"cds_start": 767,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000693681.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
"hgvs_c": "c.767G>C",
"hgvs_p": "p.Arg256Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510789.1",
"strand": false,
"transcript": "ENST00000693681.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 476,
"aa_ref": "R",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 680,
"cds_end": null,
"cds_length": 1431,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896460.1",
"gene_hgnc_id": 4247,
"gene_symbol": "GGCX",
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}