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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: 3-50364700-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50364700&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50364700,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001174051.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3398C>T",
"hgvs_p": "p.Pro1133Leu",
"transcript": "NM_006030.4",
"protein_id": "NP_006021.2",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424201.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006030.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3398C>T",
"hgvs_p": "p.Pro1133Leu",
"transcript": "ENST00000424201.7",
"protein_id": "ENSP00000390329.2",
"transcript_support_level": 1,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3398,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006030.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424201.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3428C>T",
"hgvs_p": "p.Pro1143Leu",
"transcript": "ENST00000423994.6",
"protein_id": "ENSP00000407393.2",
"transcript_support_level": 5,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1153,
"cds_start": 3428,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423994.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3419C>T",
"hgvs_p": "p.Pro1140Leu",
"transcript": "ENST00000479441.1",
"protein_id": "ENSP00000418081.1",
"transcript_support_level": 1,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3419,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000479441.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3404C>T",
"hgvs_p": "p.Pro1135Leu",
"transcript": "ENST00000266039.7",
"protein_id": "ENSP00000266039.3",
"transcript_support_level": 1,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3404,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000266039.7"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3197C>T",
"hgvs_p": "p.Pro1066Leu",
"transcript": "ENST00000360963.7",
"protein_id": "ENSP00000354228.3",
"transcript_support_level": 1,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360963.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272104",
"gene_hgnc_id": null,
"hgvs_c": "c.128-1597G>A",
"hgvs_p": null,
"transcript": "ENST00000606589.1",
"protein_id": "ENSP00000476225.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": null,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000606589.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3440C>T",
"hgvs_p": "p.Pro1147Leu",
"transcript": "ENST00000941197.1",
"protein_id": "ENSP00000611256.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3440,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941197.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3425C>T",
"hgvs_p": "p.Pro1142Leu",
"transcript": "ENST00000940542.1",
"protein_id": "ENSP00000610601.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3425,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940542.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3425C>T",
"hgvs_p": "p.Pro1142Leu",
"transcript": "ENST00000941198.1",
"protein_id": "ENSP00000611257.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3425,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941198.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3419C>T",
"hgvs_p": "p.Pro1140Leu",
"transcript": "NM_001174051.3",
"protein_id": "NP_001167522.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3419,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174051.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3407C>T",
"hgvs_p": "p.Pro1136Leu",
"transcript": "ENST00000940541.1",
"protein_id": "ENSP00000610600.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3407,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940541.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3404C>T",
"hgvs_p": "p.Pro1135Leu",
"transcript": "NM_001005505.3",
"protein_id": "NP_001005505.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3404,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005505.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3401C>T",
"hgvs_p": "p.Pro1134Leu",
"transcript": "NM_001410768.1",
"protein_id": "NP_001397697.1",
"transcript_support_level": null,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3401,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410768.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3401C>T",
"hgvs_p": "p.Pro1134Leu",
"transcript": "ENST00000429770.5",
"protein_id": "ENSP00000404631.1",
"transcript_support_level": 5,
"aa_start": 1134,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3401,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429770.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3197C>T",
"hgvs_p": "p.Pro1066Leu",
"transcript": "NM_001291101.1",
"protein_id": "NP_001278030.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291101.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.3422C>T",
"hgvs_p": "p.Pro1141Leu",
"transcript": "XM_011534243.3",
"protein_id": "XP_011532545.1",
"transcript_support_level": null,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3422,
"cds_end": null,
"cds_length": 3456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534243.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "n.681C>T",
"hgvs_p": null,
"transcript": "ENST00000483620.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000483620.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC127898564",
"gene_hgnc_id": null,
"hgvs_c": "n.276-1597G>A",
"hgvs_p": null,
"transcript": "NR_111912.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_111912.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC127898564",
"gene_hgnc_id": null,
"hgvs_c": "n.835-1597G>A",
"hgvs_p": null,
"transcript": "NR_183066.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_183066.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC127898564",
"gene_hgnc_id": null,
"hgvs_c": "n.390-1597G>A",
"hgvs_p": null,
"transcript": "NR_183067.1",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_183067.1"
}
],
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"dbsnp": "rs150832847",
"frequency_reference_population": 0.002948756,
"hom_count_reference_population": 14,
"allele_count_reference_population": 4554,
"gnomad_exomes_af": 0.00306381,
"gnomad_genomes_af": 0.0018973,
"gnomad_exomes_ac": 4265,
"gnomad_genomes_ac": 289,
"gnomad_exomes_homalt": 13,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0029498636722564697,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.053,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.64,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001174051.3",
"gene_symbol": "CACNA2D2",
"hgnc_id": 1400,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3419C>T",
"hgvs_p": "p.Pro1140Leu"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000606589.1",
"gene_symbol": "ENSG00000272104",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.128-1597G>A",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_111912.2",
"gene_symbol": "LOC127898564",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.276-1597G>A",
"hgvs_p": null
}
],
"clinvar_disease": "CACNA2D2-related disorder,Cerebellar atrophy with seizures and variable developmental delay,Developmental and epileptic encephalopathy,Inborn genetic diseases,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy|Cerebellar atrophy with seizures and variable developmental delay|Inborn genetic diseases|CACNA2D2-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}