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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: 6-151433176-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=151433176&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RMND1",
"hgnc_id": 21176,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_017909.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 1010,
"alphamissense_prediction": null,
"alphamissense_score": 0.0729,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.040447622537612915,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1350,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_017909.4",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444024.3",
"protein_coding": true,
"protein_id": "NP_060379.2",
"strand": false,
"transcript": "NM_017909.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1948,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1350,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000444024.3",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017909.4",
"protein_coding": true,
"protein_id": "ENSP00000412708.2",
"strand": false,
"transcript": "ENST00000444024.3",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 521,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2343,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1566,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682641.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506793.1",
"strand": false,
"transcript": "ENST00000682641.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 457,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1859,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1374,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949374.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619433.1",
"strand": false,
"transcript": "ENST00000949374.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1350,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000683724.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507984.1",
"strand": false,
"transcript": "ENST00000683724.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2106,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1350,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949375.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619434.1",
"strand": false,
"transcript": "ENST00000949375.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1338,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938884.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608943.1",
"strand": false,
"transcript": "ENST00000938884.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 402,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1209,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000938883.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608942.1",
"strand": false,
"transcript": "ENST00000938883.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 383,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1152,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000682299.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506811.1",
"strand": false,
"transcript": "ENST00000682299.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1077,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000904151.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574210.1",
"strand": false,
"transcript": "ENST00000904151.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 279,
"aa_ref": "P",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 275,
"cds_end": null,
"cds_length": 840,
"cds_start": 158,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001271937.2",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Pro53Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258866.1",
"strand": false,
"transcript": "NM_001271937.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 279,
"aa_ref": "P",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1340,
"cdna_start": 307,
"cds_end": null,
"cds_length": 840,
"cds_start": 158,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000622845.5",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Pro53Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481280.1",
"strand": false,
"transcript": "ENST00000622845.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 449,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1350,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418959.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274915.1",
"strand": false,
"transcript": "XM_047418959.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 444,
"aa_ref": "P",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 793,
"cds_end": null,
"cds_length": 1335,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047418960.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Pro223Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274916.1",
"strand": false,
"transcript": "XM_047418960.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 274,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1148,
"cdna_start": 275,
"cds_end": null,
"cds_length": 825,
"cds_start": 158,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047418961.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "c.158C>T",
"hgvs_p": "p.Pro53Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274917.1",
"strand": false,
"transcript": "XM_047418961.1",
"transcript_support_level": null
},
{
"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": 1413,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000336451.8",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "n.*67C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000336683.4",
"strand": false,
"transcript": "ENST00000336451.8",
"transcript_support_level": 2
},
{
"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": 730,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000643550.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "n.462C>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": "ENST00000643550.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
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"biotype": "nonsense_mediated_decay",
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"cdna_end": null,
"cdna_length": 1487,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000644054.2",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "n.668C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496328.2",
"strand": false,
"transcript": "ENST00000644054.2",
"transcript_support_level": null
},
{
"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": 1914,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000644711.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "n.668C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494106.1",
"strand": false,
"transcript": "ENST00000644711.1",
"transcript_support_level": null
},
{
"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": 1596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000645367.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "n.812C>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": "ENST00000645367.1",
"transcript_support_level": null
},
{
"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": 2052,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000645895.1",
"gene_hgnc_id": 21176,
"gene_symbol": "RMND1",
"hgvs_c": "n.785C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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