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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: 8-42369859-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=42369859&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 42369859,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002690.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Lys262Glu",
"transcript": "NM_002690.3",
"protein_id": "NP_002681.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 335,
"cds_start": 784,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265421.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002690.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Lys262Glu",
"transcript": "ENST00000265421.9",
"protein_id": "ENSP00000265421.4",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 335,
"cds_start": 784,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002690.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265421.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Lys262Glu",
"transcript": "ENST00000929417.1",
"protein_id": "ENSP00000599476.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 334,
"cds_start": 784,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929417.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Lys119Glu",
"transcript": "ENST00000518579.5",
"protein_id": "ENSP00000430478.1",
"transcript_support_level": 5,
"aa_start": 119,
"aa_end": null,
"aa_length": 238,
"cds_start": 355,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518579.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.487A>G",
"hgvs_p": "p.Lys163Glu",
"transcript": "ENST00000521290.5",
"protein_id": "ENSP00000429597.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 236,
"cds_start": 487,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521290.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Lys297Glu",
"transcript": "XM_005273535.5",
"protein_id": "XP_005273592.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 370,
"cds_start": 889,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273535.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Lys268Glu",
"transcript": "XM_005273536.5",
"protein_id": "XP_005273593.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 341,
"cds_start": 802,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273536.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.697A>G",
"hgvs_p": "p.Lys233Glu",
"transcript": "XM_005273537.5",
"protein_id": "XP_005273594.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 306,
"cds_start": 697,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273537.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "XM_005273538.3",
"protein_id": "XP_005273595.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 221,
"cds_start": 442,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273538.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "XM_017013583.2",
"protein_id": "XP_016869072.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 221,
"cds_start": 442,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013583.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Lys148Glu",
"transcript": "XM_047421900.1",
"protein_id": "XP_047277856.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 221,
"cds_start": 442,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421900.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Lys108Glu",
"transcript": "XM_005273539.3",
"protein_id": "XP_005273596.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 181,
"cds_start": 322,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273539.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Lys108Glu",
"transcript": "XM_005273540.5",
"protein_id": "XP_005273597.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 181,
"cds_start": 322,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005273540.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Lys108Glu",
"transcript": "XM_017013584.2",
"protein_id": "XP_016869073.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 181,
"cds_start": 322,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017013584.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.322A>G",
"hgvs_p": "p.Lys108Glu",
"transcript": "XM_047421901.1",
"protein_id": "XP_047277857.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 181,
"cds_start": 322,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.-60A>G",
"hgvs_p": null,
"transcript": "ENST00000521492.1",
"protein_id": "ENSP00000430831.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": null,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521492.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "c.154-1704A>G",
"hgvs_p": null,
"transcript": "ENST00000517393.1",
"protein_id": "ENSP00000428144.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": null,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517393.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "n.253A>G",
"hgvs_p": null,
"transcript": "ENST00000521418.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000521418.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "n.*309A>G",
"hgvs_p": null,
"transcript": "ENST00000522610.5",
"protein_id": "ENSP00000429436.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522610.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "n.*434A>G",
"hgvs_p": null,
"transcript": "ENST00000524208.5",
"protein_id": "ENSP00000428578.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524208.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "n.*309A>G",
"hgvs_p": null,
"transcript": "ENST00000522610.5",
"protein_id": "ENSP00000429436.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000522610.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"hgvs_c": "n.*434A>G",
"hgvs_p": null,
"transcript": "ENST00000524208.5",
"protein_id": "ENSP00000428578.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000524208.5"
}
],
"gene_symbol": "POLB",
"gene_hgnc_id": 9174,
"dbsnp": "rs1824268873",
"frequency_reference_population": 6.9743373e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.97434e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3264627456665039,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.1904,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.262,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002690.3",
"gene_symbol": "POLB",
"hgnc_id": 9174,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Lys262Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}