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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: 1-212100411-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212100411&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 212100411,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016448.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1421C>G",
"hgvs_p": "p.Ala474Gly",
"transcript": "NM_016448.4",
"protein_id": "NP_057532.4",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 730,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366991.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016448.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1421C>G",
"hgvs_p": "p.Ala474Gly",
"transcript": "ENST00000366991.5",
"protein_id": "ENSP00000355958.4",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 730,
"cds_start": 1421,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016448.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366991.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1469C>G",
"hgvs_p": "p.Ala490Gly",
"transcript": "ENST00000935628.1",
"protein_id": "ENSP00000605687.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 746,
"cds_start": 1469,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935628.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1418C>G",
"hgvs_p": "p.Ala473Gly",
"transcript": "ENST00000935625.1",
"protein_id": "ENSP00000605684.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 729,
"cds_start": 1418,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935625.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1415C>G",
"hgvs_p": "p.Ala472Gly",
"transcript": "ENST00000935626.1",
"protein_id": "ENSP00000605685.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 728,
"cds_start": 1415,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935626.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1400C>G",
"hgvs_p": "p.Ala467Gly",
"transcript": "ENST00000935631.1",
"protein_id": "ENSP00000605690.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 723,
"cds_start": 1400,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935631.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1355C>G",
"hgvs_p": "p.Ala452Gly",
"transcript": "ENST00000935624.1",
"protein_id": "ENSP00000605683.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 708,
"cds_start": 1355,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935624.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1322C>G",
"hgvs_p": "p.Ala441Gly",
"transcript": "ENST00000935627.1",
"protein_id": "ENSP00000605686.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 697,
"cds_start": 1322,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935627.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1295C>G",
"hgvs_p": "p.Ala432Gly",
"transcript": "NM_001286230.2",
"protein_id": "NP_001273159.2",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 688,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286230.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1295C>G",
"hgvs_p": "p.Ala432Gly",
"transcript": "ENST00000542077.5",
"protein_id": "ENSP00000443870.1",
"transcript_support_level": 2,
"aa_start": 432,
"aa_end": null,
"aa_length": 688,
"cds_start": 1295,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542077.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1196C>G",
"hgvs_p": "p.Ala399Gly",
"transcript": "ENST00000935629.1",
"protein_id": "ENSP00000605688.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 655,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935629.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.620C>G",
"hgvs_p": "p.Ala207Gly",
"transcript": "ENST00000935630.1",
"protein_id": "ENSP00000605689.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 463,
"cds_start": 620,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935630.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Ala203Gly",
"transcript": "NM_001286229.2",
"protein_id": "NP_001273158.2",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 459,
"cds_start": 608,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286229.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.1235C>G",
"hgvs_p": "p.Ala412Gly",
"transcript": "XM_011509614.2",
"protein_id": "XP_011507916.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 668,
"cds_start": 1235,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011509614.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"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": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "c.608C>G",
"hgvs_p": "p.Ala203Gly",
"transcript": "XM_047422489.1",
"protein_id": "XP_047278445.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 459,
"cds_start": 608,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "n.542C>G",
"hgvs_p": null,
"transcript": "ENST00000463791.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000463791.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "n.1236C>G",
"hgvs_p": null,
"transcript": "ENST00000475419.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000475419.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "n.526C>G",
"hgvs_p": null,
"transcript": "ENST00000489149.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000489149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"hgvs_c": "n.-235C>G",
"hgvs_p": null,
"transcript": "ENST00000496442.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000496442.1"
}
],
"gene_symbol": "DTL",
"gene_hgnc_id": 30288,
"dbsnp": "rs1655582771",
"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": 0.11081451177597046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.114,
"revel_prediction": "Benign",
"alphamissense_score": 0.087,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.722,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016448.4",
"gene_symbol": "DTL",
"hgnc_id": 30288,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1421C>G",
"hgvs_p": "p.Ala474Gly"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}