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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: 6-70773374-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=70773374&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 70773374,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001044305.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "NM_001044305.3",
"protein_id": "NP_001037770.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 467,
"cds_start": 363,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": "ENST00000370455.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "ENST00000370455.8",
"protein_id": "ENSP00000359484.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 467,
"cds_start": 363,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": "NM_001044305.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.333T>A",
"hgvs_p": "p.Asp111Glu",
"transcript": "ENST00000619054.4",
"protein_id": "ENSP00000484538.1",
"transcript_support_level": 1,
"aa_start": 111,
"aa_end": null,
"aa_length": 457,
"cds_start": 333,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 3150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "ENST00000316999.9",
"protein_id": "ENSP00000313382.5",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 440,
"cds_start": 363,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.333T>A",
"hgvs_p": "p.Asp111Glu",
"transcript": "NM_001281440.1",
"protein_id": "NP_001268369.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 457,
"cds_start": 333,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "NM_021940.5",
"protein_id": "NP_068759.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 440,
"cds_start": 363,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "NM_001281439.2",
"protein_id": "NP_001268368.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 436,
"cds_start": 363,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "ENST00000370452.7",
"protein_id": "ENSP00000359481.3",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 436,
"cds_start": 363,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.54T>A",
"hgvs_p": "p.Asp18Glu",
"transcript": "ENST00000445046.1",
"protein_id": "ENSP00000415426.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 61,
"cds_start": 54,
"cds_end": null,
"cds_length": 186,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.282T>A",
"hgvs_p": "p.Asp94Glu",
"transcript": "XM_047419227.1",
"protein_id": "XP_047275183.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 440,
"cds_start": 282,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.333T>A",
"hgvs_p": "p.Asp111Glu",
"transcript": "XM_047419228.1",
"protein_id": "XP_047275184.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 430,
"cds_start": 333,
"cds_end": null,
"cds_length": 1293,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "XM_011536047.4",
"protein_id": "XP_011534349.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 429,
"cds_start": 363,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.108T>A",
"hgvs_p": "p.Asp36Glu",
"transcript": "XM_047419229.1",
"protein_id": "XP_047275185.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 382,
"cds_start": 108,
"cds_end": null,
"cds_length": 1149,
"cdna_start": 291,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "XM_005248760.6",
"protein_id": "XP_005248817.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 250,
"cds_start": 363,
"cds_end": null,
"cds_length": 753,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu",
"transcript": "XM_047419230.1",
"protein_id": "XP_047275186.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 223,
"cds_start": 363,
"cds_end": null,
"cds_length": 672,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"hgvs_c": "c.-16T>A",
"hgvs_p": null,
"transcript": "ENST00000439432.1",
"protein_id": "ENSP00000398306.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": -4,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SMAP1",
"gene_hgnc_id": 19651,
"dbsnp": "rs147135200",
"frequency_reference_population": 7.0280686e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.02807e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.356842577457428,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.264,
"revel_prediction": "Benign",
"alphamissense_score": 0.7353,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.789,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001044305.3",
"gene_symbol": "SMAP1",
"hgnc_id": 19651,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.363T>A",
"hgvs_p": "p.Asp121Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}