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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: 12-14424360-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14424360&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ATF7IP",
"hgnc_id": 20092,
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Leu157Leu",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_181352.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_score": -17,
"allele_count_reference_population": 755,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.73,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7300000190734863,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8823,
"cdna_start": 598,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_018179.5",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261168.9",
"protein_coding": true,
"protein_id": "NP_060649.3",
"strand": true,
"transcript": "NM_018179.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8823,
"cdna_start": 598,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000261168.9",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018179.5",
"protein_coding": true,
"protein_id": "ENSP00000261168.4",
"strand": true,
"transcript": "ENST00000261168.9",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "L",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 789,
"cds_end": null,
"cds_length": 3837,
"cds_start": 469,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000544627.5",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Leu157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440440.1",
"strand": true,
"transcript": "ENST00000544627.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4142,
"cdna_start": 600,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000540793.5",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444589.1",
"strand": true,
"transcript": "ENST00000540793.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8774,
"cdna_start": 551,
"cds_end": null,
"cds_length": 3810,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000536444.5",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445955.1",
"strand": true,
"transcript": "ENST00000536444.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1105,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4887,
"cdna_start": 587,
"cds_end": null,
"cds_length": 3318,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000543189.5",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443179.1",
"strand": true,
"transcript": "ENST00000543189.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 514,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 626,
"cds_end": null,
"cds_length": 1546,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000396279.2",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379575.2",
"strand": true,
"transcript": "ENST00000396279.2",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "L",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8797,
"cdna_start": 572,
"cds_end": null,
"cds_length": 3837,
"cds_start": 469,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_181352.2",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Leu157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_851997.1",
"strand": true,
"transcript": "NM_181352.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1277,
"aa_ref": "L",
"aa_start": 157,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8794,
"cdna_start": 572,
"cds_end": null,
"cds_length": 3834,
"cds_start": 469,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388179.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.469C>T",
"hgvs_p": "p.Leu157Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375108.1",
"strand": true,
"transcript": "NM_001388179.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4469,
"cdna_start": 604,
"cds_end": null,
"cds_length": 3831,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884191.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554250.1",
"strand": true,
"transcript": "ENST00000884191.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1276,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4103,
"cdna_start": 542,
"cds_end": null,
"cds_length": 3831,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000969302.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639361.1",
"strand": true,
"transcript": "ENST00000969302.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9067,
"cdna_start": 842,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388180.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375109.1",
"strand": true,
"transcript": "NM_001388180.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8732,
"cdna_start": 507,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388181.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375110.1",
"strand": true,
"transcript": "NM_001388181.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8779,
"cdna_start": 554,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388182.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375111.1",
"strand": true,
"transcript": "NM_001388182.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1270,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9286,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388183.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375112.1",
"strand": true,
"transcript": "NM_001388183.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1270,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4159,
"cdna_start": 573,
"cds_end": null,
"cds_length": 3813,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000969304.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639363.1",
"strand": true,
"transcript": "ENST00000969304.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1269,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8820,
"cdna_start": 598,
"cds_end": null,
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"cds_start": 445,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001286514.2",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273443.1",
"strand": true,
"transcript": "NM_001286514.2",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1061,
"cds_end": null,
"cds_length": 3810,
"cds_start": 445,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001388184.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375113.1",
"strand": true,
"transcript": "NM_001388184.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 741,
"cds_end": null,
"cds_length": 3810,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000969301.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639360.1",
"strand": true,
"transcript": "ENST00000969301.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1248,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 653,
"cds_end": null,
"cds_length": 3747,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000936267.1",
"gene_hgnc_id": 20092,
"gene_symbol": "ATF7IP",
"hgvs_c": "c.445C>T",
"hgvs_p": "p.Leu149Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606326.1",
"strand": true,
"transcript": "ENST00000936267.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "L",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 540,
"cds_end": null,
"cds_length": 3672,
"cds_start": 445,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000969303.1",
"gene_hgnc_id": 20092,
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"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.739,
"pos": 14424360,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_181352.2"
}
]
}