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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: 19-51993067-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51993067&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 51993067,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001199324.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "NM_001199324.2",
"protein_id": "NP_001186253.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "ENST00000598071.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "ENST00000598071.6",
"protein_id": "ENSP00000471041.1",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": "NM_001199324.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "ENST00000594083.5",
"protein_id": "ENSP00000471549.1",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "ENST00000618487.4",
"protein_id": "ENSP00000483676.1",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "n.*1832A>C",
"hgvs_p": null,
"transcript": "ENST00000599177.5",
"protein_id": "ENSP00000470475.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "n.*1832A>C",
"hgvs_p": null,
"transcript": "ENST00000599177.5",
"protein_id": "ENSP00000470475.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2057A>C",
"hgvs_p": "p.His686Pro",
"transcript": "NM_001321323.2",
"protein_id": "NP_001308252.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 747,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2098,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "NM_001321319.2",
"protein_id": "NP_001308248.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2302,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "NM_001321321.2",
"protein_id": "NP_001308250.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2295,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2030A>C",
"hgvs_p": "p.His677Pro",
"transcript": "NM_001321318.2",
"protein_id": "NP_001308247.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 738,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 3871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2030A>C",
"hgvs_p": "p.His677Pro",
"transcript": "NM_001321322.2",
"protein_id": "NP_001308251.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 738,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2290,
"cdna_end": null,
"cdna_length": 4025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2024A>C",
"hgvs_p": "p.His675Pro",
"transcript": "NM_001321317.2",
"protein_id": "NP_001308246.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 736,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 3800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2024A>C",
"hgvs_p": "p.His675Pro",
"transcript": "ENST00000391795.7",
"protein_id": "ENSP00000375672.3",
"transcript_support_level": 2,
"aa_start": 675,
"aa_end": null,
"aa_length": 736,
"cds_start": 2024,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 2698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2009A>C",
"hgvs_p": "p.His670Pro",
"transcript": "NM_001321320.2",
"protein_id": "NP_001308249.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
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"cds_start": 2009,
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"cdna_start": 2269,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2009A>C",
"hgvs_p": "p.His670Pro",
"transcript": "NM_198480.4",
"protein_id": "NP_940882.3",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 731,
"cds_start": 2009,
"cds_end": null,
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"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 4042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2009A>C",
"hgvs_p": "p.His670Pro",
"transcript": "ENST00000376716.9",
"protein_id": "ENSP00000365906.4",
"transcript_support_level": 2,
"aa_start": 670,
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"cdna_start": 2326,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2009A>C",
"hgvs_p": "p.His670Pro",
"transcript": "ENST00000602063.5",
"protein_id": "ENSP00000473089.1",
"transcript_support_level": 5,
"aa_start": 670,
"aa_end": null,
"aa_length": 731,
"cds_start": 2009,
"cds_end": null,
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"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "XM_047438644.1",
"protein_id": "XP_047294600.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
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"cdna_start": 2647,
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"cdna_length": 4382,
"mane_select": null,
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"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "XM_047438645.1",
"protein_id": "XP_047294601.1",
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},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "XM_047438646.1",
"protein_id": "XP_047294602.1",
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"aa_end": null,
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"cdna_start": 2402,
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"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro",
"transcript": "XM_047438647.1",
"protein_id": "XP_047294603.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 742,
"cds_start": 2042,
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"cdna_start": 2609,
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"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.2009A>C",
"hgvs_p": "p.His670Pro",
"transcript": "XM_017026648.3",
"protein_id": "XP_016882137.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 731,
"cds_start": 2009,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"hgvs_c": "c.1685A>C",
"hgvs_p": "p.His562Pro",
"transcript": "XM_047438648.1",
"protein_id": "XP_047294604.1",
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"aa_start": 562,
"aa_end": null,
"aa_length": 623,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF615",
"gene_hgnc_id": 24740,
"dbsnp": "rs932156482",
"frequency_reference_population": 0.000001368107,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136811,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9230549931526184,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.556,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9273,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.243,
"phylop100way_prediction": "Benign",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199324.2",
"gene_symbol": "ZNF615",
"hgnc_id": 24740,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2042A>C",
"hgvs_p": "p.His681Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}