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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: 16-1220443-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1220443&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1220443,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_021098.3",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6511T>C",
"hgvs_p": "p.Trp2171Arg",
"transcript": "NM_021098.3",
"protein_id": "NP_066921.2",
"transcript_support_level": null,
"aa_start": 2171,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6511,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6511T>C",
"hgvs_p": "p.Trp2171Arg",
"transcript": "ENST00000348261.11",
"protein_id": "ENSP00000334198.7",
"transcript_support_level": 1,
"aa_start": 2171,
"aa_end": null,
"aa_length": 2353,
"cds_start": 6511,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6526T>C",
"hgvs_p": "p.Trp2176Arg",
"transcript": "ENST00000569107.6",
"protein_id": "ENSP00000454990.2",
"transcript_support_level": 1,
"aa_start": 2176,
"aa_end": null,
"aa_length": 2358,
"cds_start": 6526,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6496T>C",
"hgvs_p": "p.Trp2166Arg",
"transcript": "ENST00000711493.1",
"protein_id": "ENSP00000518778.1",
"transcript_support_level": null,
"aa_start": 2166,
"aa_end": null,
"aa_length": 2348,
"cds_start": 6496,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6493T>C",
"hgvs_p": "p.Trp2165Arg",
"transcript": "ENST00000565831.7",
"protein_id": "ENSP00000455840.1",
"transcript_support_level": 1,
"aa_start": 2165,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6493,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6493T>C",
"hgvs_p": "p.Trp2165Arg",
"transcript": "ENST00000711450.1",
"protein_id": "ENSP00000518762.1",
"transcript_support_level": null,
"aa_start": 2165,
"aa_end": null,
"aa_length": 2347,
"cds_start": 6493,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6478T>C",
"hgvs_p": "p.Trp2160Arg",
"transcript": "ENST00000564231.6",
"protein_id": "ENSP00000457555.2",
"transcript_support_level": 1,
"aa_start": 2160,
"aa_end": null,
"aa_length": 2342,
"cds_start": 6478,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6472T>C",
"hgvs_p": "p.Trp2158Arg",
"transcript": "ENST00000638323.1",
"protein_id": "ENSP00000492267.1",
"transcript_support_level": 5,
"aa_start": 2158,
"aa_end": null,
"aa_length": 2340,
"cds_start": 6472,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6460T>C",
"hgvs_p": "p.Trp2154Arg",
"transcript": "ENST00000562079.6",
"protein_id": "ENSP00000454581.2",
"transcript_support_level": 1,
"aa_start": 2154,
"aa_end": null,
"aa_length": 2336,
"cds_start": 6460,
"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": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6454T>C",
"hgvs_p": "p.Trp2152Arg",
"transcript": "ENST00000711438.1",
"protein_id": "ENSP00000518754.1",
"transcript_support_level": null,
"aa_start": 2152,
"aa_end": null,
"aa_length": 2334,
"cds_start": 6454,
"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": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6404T>C",
"hgvs_p": "p.Leu2135Pro",
"transcript": "ENST00000711482.1",
"protein_id": "ENSP00000518771.1",
"transcript_support_level": null,
"aa_start": 2135,
"aa_end": null,
"aa_length": 2137,
"cds_start": 6404,
"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": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6353T>C",
"hgvs_p": "p.Leu2118Pro",
"transcript": "ENST00000711485.1",
"protein_id": "ENSP00000518774.1",
"transcript_support_level": null,
"aa_start": 2118,
"aa_end": null,
"aa_length": 2120,
"cds_start": 6353,
"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": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.6326T>C",
"hgvs_p": "p.Leu2109Pro",
"transcript": "ENST00000711455.1",
"protein_id": "ENSP00000518768.1",
"transcript_support_level": null,
"aa_start": 2109,
"aa_end": null,
"aa_length": 2111,
"cds_start": 6326,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.*425T>C",
"hgvs_p": null,
"transcript": "ENST00000711483.1",
"protein_id": "ENSP00000518772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2087,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "c.*425T>C",
"hgvs_p": null,
"transcript": "ENST00000711456.1",
"protein_id": "ENSP00000518769.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1974,
"cds_start": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*2430T>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1559T>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*4329T>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*5955T>C",
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1452T>C",
"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,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*1370T>C",
"hgvs_p": null,
"transcript": "ENST00000711449.1",
"protein_id": "ENSP00000518761.1",
"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": "ENST00000711449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"hgvs_c": "n.*2090T>C",
"hgvs_p": null,
"transcript": "ENST00000711451.1",
"protein_id": "ENSP00000518763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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{
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{
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{
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{
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{
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],
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"biotype": "retained_intron",
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],
"gene_symbol": "CACNA1H",
"gene_hgnc_id": 1395,
"dbsnp": "rs746446797",
"frequency_reference_population": 0.0000021628168,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000216282,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08576801419258118,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.262,
"revel_prediction": "Benign",
"alphamissense_score": 0.0721,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.68,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_021098.3",
"gene_symbol": "CACNA1H",
"hgnc_id": 1395,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6511T>C",
"hgvs_p": "p.Trp2171Arg"
}
],
"clinvar_disease": " familial, type IV,Hyperaldosteronism,Idiopathic generalized epilepsy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Idiopathic generalized epilepsy;Hyperaldosteronism, familial, type IV",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}