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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: 4-82827464-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=82827464&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 82827464,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001400154.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Val1066Ile",
"transcript": "NM_001077207.4",
"protein_id": "NP_001070675.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395310.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077207.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Val1066Ile",
"transcript": "ENST00000395310.7",
"protein_id": "ENSP00000378721.2",
"transcript_support_level": 1,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077207.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395310.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3151G>A",
"hgvs_p": "p.Val1051Ile",
"transcript": "ENST00000508502.5",
"protein_id": "ENSP00000424635.1",
"transcript_support_level": 1,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1205,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508502.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3079G>A",
"hgvs_p": "p.Val1027Ile",
"transcript": "ENST00000348405.8",
"protein_id": "ENSP00000337602.5",
"transcript_support_level": 1,
"aa_start": 1027,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3079,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348405.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3034G>A",
"hgvs_p": "p.Val1012Ile",
"transcript": "ENST00000505984.5",
"protein_id": "ENSP00000424451.1",
"transcript_support_level": 1,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505984.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2854G>A",
"hgvs_p": "p.Val952Ile",
"transcript": "ENST00000311785.11",
"protein_id": "ENSP00000309070.7",
"transcript_support_level": 1,
"aa_start": 952,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2854,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311785.11"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.2737G>A",
"hgvs_p": "p.Val913Ile",
"transcript": "ENST00000513858.5",
"protein_id": "ENSP00000426886.1",
"transcript_support_level": 1,
"aa_start": 913,
"aa_end": null,
"aa_length": 1067,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513858.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Val228Ile",
"transcript": "ENST00000503937.5",
"protein_id": "ENSP00000422371.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 382,
"cds_start": 682,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503937.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3289G>A",
"hgvs_p": "p.Val1097Ile",
"transcript": "NM_001400154.1",
"protein_id": "NP_001387083.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400154.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3289G>A",
"hgvs_p": "p.Val1097Ile",
"transcript": "NM_001400155.1",
"protein_id": "NP_001387084.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400155.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3289G>A",
"hgvs_p": "p.Val1097Ile",
"transcript": "ENST00000505472.5",
"protein_id": "ENSP00000421633.1",
"transcript_support_level": 5,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1251,
"cds_start": 3289,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505472.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3244G>A",
"hgvs_p": "p.Val1082Ile",
"transcript": "NM_001400156.1",
"protein_id": "NP_001387085.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3244,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400156.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3244G>A",
"hgvs_p": "p.Val1082Ile",
"transcript": "ENST00000854381.1",
"protein_id": "ENSP00000524440.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3244,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854381.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3244G>A",
"hgvs_p": "p.Val1082Ile",
"transcript": "ENST00000951360.1",
"protein_id": "ENSP00000621419.1",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3244,
"cds_end": null,
"cds_length": 3711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951360.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Val1079Ile",
"transcript": "NM_001400157.1",
"protein_id": "NP_001387086.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400157.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Val1079Ile",
"transcript": "NM_001400158.1",
"protein_id": "NP_001387087.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400158.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3235G>A",
"hgvs_p": "p.Val1079Ile",
"transcript": "NM_001400159.1",
"protein_id": "NP_001387088.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400159.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3211G>A",
"hgvs_p": "p.Val1071Ile",
"transcript": "NM_001400160.1",
"protein_id": "NP_001387089.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400160.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3211G>A",
"hgvs_p": "p.Val1071Ile",
"transcript": "NM_001400161.1",
"protein_id": "NP_001387090.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3211,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400161.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3205G>A",
"hgvs_p": "p.Val1069Ile",
"transcript": "NM_001400162.1",
"protein_id": "NP_001387091.1",
"transcript_support_level": null,
"aa_start": 1069,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3205,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400162.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Val1066Ile",
"transcript": "NM_001318120.2",
"protein_id": "NP_001305049.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3196,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318120.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC31A",
"gene_hgnc_id": 17052,
"hgvs_c": "c.3196G>A",
"hgvs_p": "p.Val1066Ile",
"transcript": "NM_001400164.1",
"protein_id": "NP_001387093.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1220,
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001400154.1",
"gene_symbol": "SEC31A",
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"effects": [
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],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.3289G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}