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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: 5-75596434-GAT-AAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75596434&ref=GAT&alt=AAC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POLK",
"hgnc_id": 9183,
"hgvs_c": "c.1783_1785delGATinsAAC",
"hgvs_p": "p.Asp595Asn",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001387111.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP2",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14623,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016218.6",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000241436.9",
"protein_coding": true,
"protein_id": "NP_057302.1",
"strand": true,
"transcript": "NM_016218.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14623,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000241436.9",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016218.6",
"protein_coding": true,
"protein_id": "ENSP00000241436.4",
"strand": true,
"transcript": "ENST00000241436.9",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 672,
"aa_ref": "D",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000508526.5",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1147_1149delGATinsAAC",
"hgvs_p": "p.Asp383Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426853.1",
"strand": true,
"transcript": "ENST00000508526.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1484,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000504026.5",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1357-1313_1357-1311delGATinsAAC",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425075.1",
"strand": true,
"transcript": "ENST00000504026.5",
"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": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000514141.5",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "n.*360_*362delGATinsAAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423526.1",
"strand": true,
"transcript": "ENST00000514141.5",
"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": 4345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000514141.5",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "n.*360_*362delGATinsAAC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423526.1",
"strand": true,
"transcript": "ENST00000514141.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 884,
"aa_ref": "D",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14665,
"cdna_start": 1820,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387111.3",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1783_1785delGATinsAAC",
"hgvs_p": "p.Asp595Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374040.1",
"strand": true,
"transcript": "NM_001387111.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 884,
"aa_ref": "D",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14802,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 2655,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395894.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1783_1785delGATinsAAC",
"hgvs_p": "p.Asp595Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382823.1",
"strand": true,
"transcript": "NM_001395894.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 883,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14799,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395897.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1780_1782delGATinsAAC",
"hgvs_p": "p.Asp594Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382826.1",
"strand": true,
"transcript": "NM_001395897.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14760,
"cdna_start": 1915,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387113.3",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374042.1",
"strand": true,
"transcript": "NM_001387113.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 2024,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863893.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533952.1",
"strand": true,
"transcript": "ENST00000863893.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 1930,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863894.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533953.1",
"strand": true,
"transcript": "ENST00000863894.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863896.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533955.1",
"strand": true,
"transcript": "ENST00000863896.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3765,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000935335.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605394.1",
"strand": true,
"transcript": "ENST00000935335.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 870,
"aa_ref": "D",
"aa_start": 581,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2819,
"cdna_start": 1873,
"cds_end": null,
"cds_length": 2613,
"cds_start": 1741,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965055.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1741_1743delGATinsAAC",
"hgvs_p": "p.Asp581Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635114.1",
"strand": true,
"transcript": "ENST00000965055.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 867,
"aa_ref": "D",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14614,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 2604,
"cds_start": 1732,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001387110.3",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1732_1734delGATinsAAC",
"hgvs_p": "p.Asp578Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374039.1",
"strand": true,
"transcript": "NM_001387110.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 819,
"aa_ref": "D",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14470,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001395899.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1588_1590delGATinsAAC",
"hgvs_p": "p.Asp530Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382828.1",
"strand": true,
"transcript": "NM_001395899.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 819,
"aa_ref": "D",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": 1625,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863895.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1588_1590delGATinsAAC",
"hgvs_p": "p.Asp530Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533954.1",
"strand": true,
"transcript": "ENST00000863895.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 819,
"aa_ref": "D",
"aa_start": 530,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2460,
"cds_start": 1588,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965054.1",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1588_1590delGATinsAAC",
"hgvs_p": "p.Asp530Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635113.1",
"strand": true,
"transcript": "ENST00000965054.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 804,
"aa_ref": "D",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14475,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1543,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001345921.3",
"gene_hgnc_id": 9183,
"gene_symbol": "POLK",
"hgvs_c": "c.1543_1545delGATinsAAC",
"hgvs_p": "p.Asp515Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001332850.1",
"strand": true,
"transcript": "NM_001345921.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 804,
"aa_ref": "D",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14612,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1543,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
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