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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: 12-56328276-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56328276&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56328276,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000440411.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_014871.6",
"protein_id": "NP_055686.4",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1198,
"cds_start": 535,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": "ENST00000440411.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "ENST00000440411.8",
"protein_id": "ENSP00000388231.3",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 1198,
"cds_start": 535,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": "NM_014871.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "ENST00000425394.7",
"protein_id": "ENSP00000401721.2",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 1202,
"cds_start": 535,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 4592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "ENST00000257931.9",
"protein_id": "ENSP00000257931.5",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 1201,
"cds_start": 535,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4537,
"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": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "n.725A>C",
"hgvs_p": null,
"transcript": "ENST00000547994.5",
"protein_id": null,
"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": 2605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001127460.4",
"protein_id": "NP_001120932.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1202,
"cds_start": 535,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 4628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394699.1",
"protein_id": "NP_001381628.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1202,
"cds_start": 535,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 4535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "ENST00000548043.5",
"protein_id": "ENSP00000449861.1",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 1202,
"cds_start": 535,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "ENST00000610546.4",
"protein_id": "ENSP00000481859.1",
"transcript_support_level": 5,
"aa_start": 179,
"aa_end": null,
"aa_length": 1202,
"cds_start": 535,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001166279.3",
"protein_id": "NP_001159751.2",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1201,
"cds_start": 535,
"cds_end": null,
"cds_length": 3606,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394700.1",
"protein_id": "NP_001381629.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1198,
"cds_start": 535,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 881,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394701.1",
"protein_id": "NP_001381630.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1197,
"cds_start": 535,
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"cdna_start": 788,
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"cdna_length": 4520,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394702.1",
"protein_id": "NP_001381631.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 1197,
"cds_start": 535,
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"cdna_start": 881,
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"cdna_length": 4613,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394703.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394704.1",
"protein_id": "NP_001381633.1",
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"aa_start": 179,
"aa_end": null,
"aa_length": 1135,
"cds_start": 535,
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"cdna_start": 788,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394705.1",
"protein_id": "NP_001381634.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394706.1",
"protein_id": "NP_001381635.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu",
"transcript": "NM_001394707.1",
"protein_id": "NP_001381636.1",
"transcript_support_level": null,
"aa_start": 179,
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"cds_start": 535,
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"cdna_start": 881,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
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"hgvs_p": "p.Ile40Leu",
"transcript": "NM_001394708.1",
"protein_id": "NP_001381637.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "c.118A>C",
"hgvs_p": "p.Ile40Leu",
"transcript": "ENST00000547572.1",
"protein_id": "ENSP00000449092.1",
"transcript_support_level": 3,
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"aa_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "n.322A>C",
"hgvs_p": null,
"transcript": "ENST00000547518.1",
"protein_id": null,
"transcript_support_level": 4,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 540,
"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": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"hgvs_c": "n.825A>C",
"hgvs_p": null,
"transcript": "ENST00000551359.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PAN2",
"gene_hgnc_id": 20074,
"dbsnp": "rs1918496",
"frequency_reference_population": 0.9712358,
"hom_count_reference_population": 768342,
"allele_count_reference_population": 1561516,
"gnomad_exomes_af": 0.983944,
"gnomad_genomes_af": 0.849698,
"gnomad_exomes_ac": 1432197,
"gnomad_genomes_ac": 129319,
"gnomad_exomes_homalt": 709426,
"gnomad_genomes_homalt": 58916,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 6.695100864817505e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.0674,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.587,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000440411.8",
"gene_symbol": "PAN2",
"hgnc_id": 20074,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.535A>C",
"hgvs_p": "p.Ile179Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}