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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: 10-101608897-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101608897&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101608897,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001329742.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Leu156Ser",
"transcript": "NM_015448.3",
"protein_id": "NP_056263.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 203,
"cds_start": 467,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370151.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015448.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Leu156Ser",
"transcript": "ENST00000370151.9",
"protein_id": "ENSP00000359170.4",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 203,
"cds_start": 467,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015448.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370151.9"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Leu188Ser",
"transcript": "ENST00000897438.1",
"protein_id": "ENSP00000567497.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 235,
"cds_start": 563,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897438.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.518T>C",
"hgvs_p": "p.Leu173Ser",
"transcript": "ENST00000927874.1",
"protein_id": "ENSP00000597933.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 220,
"cds_start": 518,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927874.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.500T>C",
"hgvs_p": "p.Leu167Ser",
"transcript": "NM_001329742.2",
"protein_id": "NP_001316671.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 214,
"cds_start": 500,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329742.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.500T>C",
"hgvs_p": "p.Leu167Ser",
"transcript": "ENST00000897439.1",
"protein_id": "ENSP00000567498.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 214,
"cds_start": 500,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897439.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.497T>C",
"hgvs_p": "p.Leu166Ser",
"transcript": "ENST00000927878.1",
"protein_id": "ENSP00000597937.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 213,
"cds_start": 497,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927878.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Leu162Ser",
"transcript": "ENST00000927876.1",
"protein_id": "ENSP00000597935.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 209,
"cds_start": 485,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927876.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.467T>C",
"hgvs_p": "p.Leu156Ser",
"transcript": "ENST00000897437.1",
"protein_id": "ENSP00000567496.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 201,
"cds_start": 467,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897437.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.437T>C",
"hgvs_p": "p.Leu146Ser",
"transcript": "ENST00000927877.1",
"protein_id": "ENSP00000597936.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 193,
"cds_start": 437,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927877.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Leu144Ser",
"transcript": "NM_001329743.2",
"protein_id": "NP_001316672.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 191,
"cds_start": 431,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329743.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.431T>C",
"hgvs_p": "p.Leu144Ser",
"transcript": "ENST00000897440.1",
"protein_id": "ENSP00000567499.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 191,
"cds_start": 431,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897440.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Ser",
"transcript": "ENST00000897436.1",
"protein_id": "ENSP00000567495.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 176,
"cds_start": 386,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897436.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Cys170Arg",
"transcript": "NM_001329744.2",
"protein_id": "NP_001316673.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 170,
"cds_start": 508,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329744.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Cys170Arg",
"transcript": "ENST00000370147.5",
"protein_id": "ENSP00000359166.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 170,
"cds_start": 508,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370147.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.508T>C",
"hgvs_p": "p.Cys170Arg",
"transcript": "ENST00000626968.2",
"protein_id": "ENSP00000486078.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 170,
"cds_start": 508,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626968.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.200T>C",
"hgvs_p": "p.Leu67Ser",
"transcript": "NM_001329745.2",
"protein_id": "NP_001316674.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 114,
"cds_start": 200,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329745.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.478-470T>C",
"hgvs_p": null,
"transcript": "ENST00000927875.1",
"protein_id": "ENSP00000597934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927875.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.297-470T>C",
"hgvs_p": null,
"transcript": "ENST00000434727.1",
"protein_id": "ENSP00000403505.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": null,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "n.289T>C",
"hgvs_p": null,
"transcript": "ENST00000475443.1",
"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": "pseudogene",
"feature": "ENST00000475443.1"
}
],
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"dbsnp": "rs7006",
"frequency_reference_population": 0.27544937,
"hom_count_reference_population": 63182,
"allele_count_reference_population": 444188,
"gnomad_exomes_af": 0.274884,
"gnomad_genomes_af": 0.280888,
"gnomad_exomes_ac": 401516,
"gnomad_genomes_ac": 42672,
"gnomad_exomes_homalt": 56982,
"gnomad_genomes_homalt": 6200,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002719014883041382,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0483,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.597,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001329742.2",
"gene_symbol": "DPCD",
"hgnc_id": 24542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.500T>C",
"hgvs_p": "p.Leu167Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}