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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: 11-95847858-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95847858&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95847858,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000346299.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1034delA",
"hgvs_p": "p.Asn345fs",
"transcript": "NM_016156.6",
"protein_id": "NP_057240.3",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 643,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "ENST00000346299.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1034delA",
"hgvs_p": "p.Asn345fs",
"transcript": "ENST00000346299.10",
"protein_id": "ENSP00000345752.6",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 643,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": "NM_016156.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "ENST00000352297.11",
"protein_id": "ENSP00000343737.7",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "ENST00000393223.8",
"protein_id": "ENSP00000376915.3",
"transcript_support_level": 1,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 4601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.950delA",
"hgvs_p": "p.Asn317fs",
"transcript": "NM_001440647.1",
"protein_id": "NP_001427576.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 615,
"cds_start": 950,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1034delA",
"hgvs_p": "p.Asn345fs",
"transcript": "NM_001440648.1",
"protein_id": "NP_001427577.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 612,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.848delA",
"hgvs_p": "p.Asn283fs",
"transcript": "NM_001440649.1",
"protein_id": "NP_001427578.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 581,
"cds_start": 848,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.848delA",
"hgvs_p": "p.Asn283fs",
"transcript": "ENST00000675022.1",
"protein_id": "ENSP00000502722.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 581,
"cds_start": 848,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 4323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.845delA",
"hgvs_p": "p.Asn282fs",
"transcript": "NM_001440651.1",
"protein_id": "NP_001427580.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 580,
"cds_start": 845,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001243571.2",
"protein_id": "NP_001230500.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 4762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440630.1",
"protein_id": "NP_001427559.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440631.1",
"protein_id": "NP_001427560.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440632.1",
"protein_id": "NP_001427561.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 4810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440633.1",
"protein_id": "NP_001427562.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
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"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 4785,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440634.1",
"protein_id": "NP_001427563.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440635.1",
"protein_id": "NP_001427564.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
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"cds_start": 818,
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"cdna_start": 1081,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440636.1",
"protein_id": "NP_001427565.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_001440637.1",
"protein_id": "NP_001427566.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_201278.3",
"protein_id": "NP_958435.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
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"cdna_start": 1381,
"cdna_end": null,
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"mane_select": null,
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},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "NM_201281.3",
"protein_id": "NP_958438.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
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"cdna_start": 1258,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "ENST00000409459.5",
"protein_id": "ENSP00000386882.1",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
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"cds_start": 818,
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"cdna_start": 1320,
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"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "ENST00000444541.7",
"protein_id": "ENSP00000396020.2",
"transcript_support_level": 5,
"aa_start": 273,
"aa_end": null,
"aa_length": 571,
"cds_start": 818,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.818delA",
"hgvs_p": "p.Asn273fs",
"transcript": "ENST00000470293.6",
"protein_id": "ENSP00000502515.1",
"transcript_support_level": 4,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}