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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: 16-1214973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1214973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1214973,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_021098.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu",
"transcript": "NM_021098.3",
"protein_id": "NP_066921.2",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4931,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348261.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021098.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu",
"transcript": "ENST00000348261.11",
"protein_id": "ENSP00000334198.7",
"transcript_support_level": 1,
"aa_start": 1644,
"aa_end": null,
"aa_length": 2353,
"cds_start": 4931,
"cds_end": null,
"cds_length": 7062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021098.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348261.11"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4946C>T",
"hgvs_p": "p.Ser1649Leu",
"transcript": "ENST00000569107.6",
"protein_id": "ENSP00000454990.2",
"transcript_support_level": 1,
"aa_start": 1649,
"aa_end": null,
"aa_length": 2358,
"cds_start": 4946,
"cds_end": null,
"cds_length": 7077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569107.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4949C>T",
"hgvs_p": "p.Ser1650Leu",
"transcript": "ENST00000711493.1",
"protein_id": "ENSP00000518778.1",
"transcript_support_level": null,
"aa_start": 1650,
"aa_end": null,
"aa_length": 2348,
"cds_start": 4949,
"cds_end": null,
"cds_length": 7047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711493.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4913C>T",
"hgvs_p": "p.Ser1638Leu",
"transcript": "ENST00000565831.7",
"protein_id": "ENSP00000455840.1",
"transcript_support_level": 1,
"aa_start": 1638,
"aa_end": null,
"aa_length": 2347,
"cds_start": 4913,
"cds_end": null,
"cds_length": 7044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565831.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4946C>T",
"hgvs_p": "p.Ser1649Leu",
"transcript": "ENST00000711450.1",
"protein_id": "ENSP00000518762.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 2347,
"cds_start": 4946,
"cds_end": null,
"cds_length": 7044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711450.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu",
"transcript": "ENST00000564231.6",
"protein_id": "ENSP00000457555.2",
"transcript_support_level": 1,
"aa_start": 1644,
"aa_end": null,
"aa_length": 2342,
"cds_start": 4931,
"cds_end": null,
"cds_length": 7029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564231.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4892C>T",
"hgvs_p": "p.Ser1631Leu",
"transcript": "ENST00000638323.1",
"protein_id": "ENSP00000492267.1",
"transcript_support_level": 5,
"aa_start": 1631,
"aa_end": null,
"aa_length": 2340,
"cds_start": 4892,
"cds_end": null,
"cds_length": 7023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638323.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4913C>T",
"hgvs_p": "p.Ser1638Leu",
"transcript": "ENST00000562079.6",
"protein_id": "ENSP00000454581.2",
"transcript_support_level": 1,
"aa_start": 1638,
"aa_end": null,
"aa_length": 2336,
"cds_start": 4913,
"cds_end": null,
"cds_length": 7011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562079.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4874C>T",
"hgvs_p": "p.Ser1625Leu",
"transcript": "ENST00000711438.1",
"protein_id": "ENSP00000518754.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 2334,
"cds_start": 4874,
"cds_end": null,
"cds_length": 7005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711438.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu",
"transcript": "ENST00000711482.1",
"protein_id": "ENSP00000518771.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 2137,
"cds_start": 4931,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711482.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4913C>T",
"hgvs_p": "p.Ser1638Leu",
"transcript": "ENST00000711485.1",
"protein_id": "ENSP00000518774.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 2120,
"cds_start": 4913,
"cds_end": null,
"cds_length": 6363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711485.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu",
"transcript": "ENST00000711455.1",
"protein_id": "ENSP00000518768.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 2111,
"cds_start": 4931,
"cds_end": null,
"cds_length": 6336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711455.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu",
"transcript": "ENST00000711483.1",
"protein_id": "ENSP00000518772.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 2087,
"cds_start": 4931,
"cds_end": null,
"cds_length": 6264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711483.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu",
"transcript": "ENST00000711456.1",
"protein_id": "ENSP00000518769.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1974,
"cds_start": 4931,
"cds_end": null,
"cds_length": 5925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711456.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.4931C>T",
"hgvs_p": null,
"transcript": "ENST00000621827.2",
"protein_id": "ENSP00000518766.1",
"transcript_support_level": 6,
"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": "ENST00000621827.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*883C>T",
"hgvs_p": null,
"transcript": "ENST00000637236.3",
"protein_id": "ENSP00000492650.2",
"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": "ENST00000637236.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*12C>T",
"hgvs_p": null,
"transcript": "ENST00000639478.1",
"protein_id": "ENSP00000491945.1",
"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": "ENST00000639478.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*2782C>T",
"hgvs_p": null,
"transcript": "ENST00000640028.1",
"protein_id": "ENSP00000491488.1",
"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": "ENST00000640028.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*4375C>T",
"hgvs_p": null,
"transcript": "ENST00000711442.1",
"protein_id": "ENSP00000518758.1",
"transcript_support_level": null,
"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": "ENST00000711442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.4913C>T",
"hgvs_p": null,
"transcript": "ENST00000711448.1",
"protein_id": "ENSP00000518760.1",
"transcript_support_level": null,
"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": "ENST00000711448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
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{
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{
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{
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"non_coding_transcript_exon_variant"
],
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{
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],
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"biotype": "retained_intron",
"feature": "ENST00000711490.1"
}
],
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"dbsnp": "rs745902196",
"frequency_reference_population": 0.000006894564,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000689456,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25662165880203247,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03799999877810478,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.481,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1203,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.12,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.001640133593512,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_021098.3",
"gene_symbol": "CACNA1H",
"hgnc_id": 1395,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4931C>T",
"hgvs_p": "p.Ser1644Leu"
}
],
"clinvar_disease": " 6, childhood absence, familial, susceptibility to, type IV,Epilepsy,Hyperaldosteronism,Idiopathic generalized epilepsy,Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Idiopathic generalized epilepsy;Hyperaldosteronism, familial, type IV|Inborn genetic diseases|Epilepsy, childhood absence, susceptibility to, 6;Hyperaldosteronism, familial, type IV",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}