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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: 7-72023704-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=72023704&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 72023704,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_031468.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.454G>T",
"hgvs_p": "p.Gly152Cys",
"transcript": "NM_031468.4",
"protein_id": "NP_113656.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 261,
"cds_start": 454,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395275.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031468.4"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.454G>T",
"hgvs_p": "p.Gly152Cys",
"transcript": "ENST00000395275.7",
"protein_id": "ENSP00000378690.2",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 261,
"cds_start": 454,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031468.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395275.7"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "ENST00000329008.9",
"protein_id": "ENSP00000332498.5",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329008.9"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "ENST00000395276.6",
"protein_id": "ENSP00000378691.2",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395276.6"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "ENST00000431984.5",
"protein_id": "ENSP00000410704.1",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431984.5"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "NM_001017440.3",
"protein_id": "NP_001017440.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001017440.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "NM_001363460.1",
"protein_id": "NP_001350389.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363460.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "ENST00000446128.1",
"protein_id": "ENSP00000411806.1",
"transcript_support_level": 4,
"aa_start": 110,
"aa_end": null,
"aa_length": 124,
"cds_start": 328,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446128.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.466G>T",
"hgvs_p": "p.Gly156Cys",
"transcript": "XM_047420910.1",
"protein_id": "XP_047276866.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 265,
"cds_start": 466,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420910.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.454G>T",
"hgvs_p": "p.Gly152Cys",
"transcript": "XM_017012676.3",
"protein_id": "XP_016868165.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 261,
"cds_start": 454,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012676.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.379G>T",
"hgvs_p": "p.Gly127Cys",
"transcript": "XM_011516594.4",
"protein_id": "XP_011514896.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 236,
"cds_start": 379,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516594.4"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Gly113Cys",
"transcript": "XM_017012677.2",
"protein_id": "XP_016868166.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 222,
"cds_start": 337,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012677.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_011516596.3",
"protein_id": "XP_011514898.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516596.3"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_011516597.2",
"protein_id": "XP_011514899.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516597.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_017012678.2",
"protein_id": "XP_016868167.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012678.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_017012679.1",
"protein_id": "XP_016868168.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012679.1"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_017012680.2",
"protein_id": "XP_016868169.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012680.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_017012682.2",
"protein_id": "XP_016868171.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012682.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_017012683.2",
"protein_id": "XP_016868172.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 219,
"cds_start": 328,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012683.2"
},
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"hgvs_c": "c.328G>T",
"hgvs_p": "p.Gly110Cys",
"transcript": "XM_047420911.1",
"protein_id": "XP_047276867.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 130,
"cds_start": 328,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420911.1"
}
],
"gene_symbol": "CALN1",
"gene_hgnc_id": 13248,
"dbsnp": "rs557342382",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3175983428955078,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.1833,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.64,
"phylop100way_prediction": "Uncertain_significance",
"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_031468.4",
"gene_symbol": "CALN1",
"hgnc_id": 13248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.454G>T",
"hgvs_p": "p.Gly152Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}