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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: 9-136410679-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136410679&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136410679,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015160.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "NM_015160.3",
"protein_id": "NP_055975.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 525,
"cds_start": 11,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371717.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015160.3"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000371717.8",
"protein_id": "ENSP00000360782.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 525,
"cds_start": 11,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015160.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371717.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.20T>A",
"hgvs_p": null,
"transcript": "ENST00000622209.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000622209.4"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000444897.3",
"protein_id": "ENSP00000408393.2",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 563,
"cds_start": 11,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444897.3"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000965378.1",
"protein_id": "ENSP00000635437.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 558,
"cds_start": 11,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965378.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000706376.1",
"protein_id": "ENSP00000516358.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 548,
"cds_start": 11,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706376.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000965380.1",
"protein_id": "ENSP00000635439.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 532,
"cds_start": 11,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965380.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000914545.1",
"protein_id": "ENSP00000584604.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 524,
"cds_start": 11,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914545.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000965379.1",
"protein_id": "ENSP00000635438.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 523,
"cds_start": 11,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965379.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000873467.1",
"protein_id": "ENSP00000543526.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 520,
"cds_start": 11,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873467.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000914546.1",
"protein_id": "ENSP00000584605.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 475,
"cds_start": 11,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914546.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "ENST00000914547.1",
"protein_id": "ENSP00000584606.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 437,
"cds_start": 11,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914547.1"
},
{
"aa_ref": "V",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.11T>A",
"hgvs_p": "p.Val4Glu",
"transcript": "XM_005266059.4",
"protein_id": "XP_005266116.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 563,
"cds_start": 11,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266059.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.-288T>A",
"hgvs_p": null,
"transcript": "NM_001282946.2",
"protein_id": "NP_001269875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282946.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "c.-288T>A",
"hgvs_p": null,
"transcript": "NM_001282944.2",
"protein_id": "NP_001269873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": null,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282944.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.22T>A",
"hgvs_p": null,
"transcript": "ENST00000371720.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000371720.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.11T>A",
"hgvs_p": null,
"transcript": "ENST00000399219.7",
"protein_id": "ENSP00000416702.3",
"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": "nonsense_mediated_decay",
"feature": "ENST00000399219.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.39T>A",
"hgvs_p": null,
"transcript": "ENST00000612553.5",
"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": "retained_intron",
"feature": "ENST00000612553.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.6T>A",
"hgvs_p": null,
"transcript": "ENST00000614402.4",
"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": "retained_intron",
"feature": "ENST00000614402.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.36T>A",
"hgvs_p": null,
"transcript": "ENST00000619192.4",
"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": "retained_intron",
"feature": "ENST00000619192.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.22T>A",
"hgvs_p": null,
"transcript": "ENST00000620412.4",
"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": "retained_intron",
"feature": "ENST00000620412.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMPCA",
"gene_hgnc_id": 18667,
"hgvs_c": "n.11T>A",
"hgvs_p": null,
"transcript": "ENST00000706227.1",
"protein_id": "ENSP00000516285.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.012,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_015160.3",
"gene_symbol": "PMPCA",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Val4Glu"
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{
"score": 0,
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"pathogenic_score": 0,
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"verdict": "Uncertain_significance",
"transcript": "NM_001039707.2",
"gene_symbol": "ENTR1",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}