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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: 10-119123507-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=119123507&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 119123507,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_207009.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Ile",
"transcript": "NM_207009.4",
"protein_id": "NP_996892.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 357,
"cds_start": 632,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361432.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207009.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Ile",
"transcript": "ENST00000361432.3",
"protein_id": "ENSP00000354688.2",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 357,
"cds_start": 632,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207009.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361432.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Ile",
"transcript": "NM_001303111.2",
"protein_id": "NP_001290040.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 349,
"cds_start": 608,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303111.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Thr196Ile",
"transcript": "ENST00000857543.1",
"protein_id": "ENSP00000527602.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 342,
"cds_start": 587,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857543.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Ile",
"transcript": "ENST00000857542.1",
"protein_id": "ENSP00000527601.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 321,
"cds_start": 632,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857542.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Thr138Ile",
"transcript": "NM_001303112.2",
"protein_id": "NP_001290041.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 284,
"cds_start": 413,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303112.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Ile",
"transcript": "ENST00000931616.1",
"protein_id": "ENSP00000601675.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 252,
"cds_start": 317,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931616.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Thr100Ile",
"transcript": "ENST00000648560.1",
"protein_id": "ENSP00000496780.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 246,
"cds_start": 299,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648560.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Thr97Ile",
"transcript": "ENST00000931617.1",
"protein_id": "ENSP00000601676.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 243,
"cds_start": 290,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931617.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Thr60Ile",
"transcript": "NM_001303113.2",
"protein_id": "NP_001290042.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 206,
"cds_start": 179,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303113.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Ile",
"transcript": "XM_047425249.1",
"protein_id": "XP_047281205.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 349,
"cds_start": 608,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425249.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Ile",
"transcript": "XM_017016264.3",
"protein_id": "XP_016871753.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 302,
"cds_start": 632,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016264.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Thr100Ile",
"transcript": "XM_006717849.5",
"protein_id": "XP_006717912.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 246,
"cds_start": 299,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717849.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Thr100Ile",
"transcript": "XM_047425250.1",
"protein_id": "XP_047281206.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 246,
"cds_start": 299,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425250.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Thr100Ile",
"transcript": "XM_047425251.1",
"protein_id": "XP_047281207.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 246,
"cds_start": 299,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425251.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.299C>T",
"hgvs_p": "p.Thr100Ile",
"transcript": "XM_047425252.1",
"protein_id": "XP_047281208.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 246,
"cds_start": 299,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425252.1"
},
{
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.481+5840C>T",
"hgvs_p": null,
"transcript": "ENST00000857544.1",
"protein_id": "ENSP00000527603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857544.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "c.481+5840C>T",
"hgvs_p": null,
"transcript": "ENST00000963812.1",
"protein_id": "ENSP00000633871.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": null,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "n.598C>T",
"hgvs_p": null,
"transcript": "ENST00000448258.6",
"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": "ENST00000448258.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "n.691C>T",
"hgvs_p": null,
"transcript": "ENST00000487888.5",
"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": "ENST00000487888.5"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "n.807C>T",
"hgvs_p": null,
"transcript": "ENST00000489988.5",
"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": "ENST00000489988.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "n.110C>T",
"hgvs_p": null,
"transcript": "ENST00000498549.2",
"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": "ENST00000498549.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"hgvs_c": "n.550C>T",
"hgvs_p": null,
"transcript": "NR_130122.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_130122.2"
}
],
"gene_symbol": "DENND10",
"gene_hgnc_id": 31793,
"dbsnp": null,
"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": 0.25200873613357544,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.037,
"revel_prediction": "Benign",
"alphamissense_score": 0.315,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.98,
"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_207009.4",
"gene_symbol": "DENND10",
"hgnc_id": 31793,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.632C>T",
"hgvs_p": "p.Thr211Ile"
}
],
"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
}