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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: 16-11556552-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11556552&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11556552,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000622633.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "NM_001136472.2",
"protein_id": "NP_001129944.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": "ENST00000622633.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000622633.5",
"protein_id": "ENSP00000483114.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 2440,
"mane_select": "NM_001136472.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000339430.9",
"protein_id": "ENSP00000340118.5",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 2356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000570904.5",
"protein_id": "ENSP00000459138.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000571688.6",
"protein_id": "ENSP00000459533.1",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "NM_004862.4",
"protein_id": "NP_004853.2",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000574763.5",
"protein_id": "ENSP00000461813.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000576036.5",
"protein_id": "ENSP00000461667.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000571627.5",
"protein_id": "ENSP00000460743.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 152,
"cds_start": 179,
"cds_end": null,
"cds_length": 461,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "NM_001136473.1",
"protein_id": "NP_001129945.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 152,
"cds_start": 179,
"cds_end": null,
"cds_length": 459,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000413364.6",
"protein_id": "ENSP00000397958.2",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 152,
"cds_start": 179,
"cds_end": null,
"cds_length": 459,
"cdna_start": 249,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000570798.5",
"protein_id": "ENSP00000458871.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 136,
"cds_start": 179,
"cds_end": null,
"cds_length": 412,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000574701.5",
"protein_id": "ENSP00000458981.1",
"transcript_support_level": 4,
"aa_start": 60,
"aa_end": null,
"aa_length": 135,
"cds_start": 179,
"cds_end": null,
"cds_length": 409,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000571976.1",
"protein_id": "ENSP00000460133.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 126,
"cds_start": 179,
"cds_end": null,
"cds_length": 381,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000574703.5",
"protein_id": "ENSP00000459913.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 105,
"cds_start": 179,
"cds_end": null,
"cds_length": 318,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "ENST00000571459.5",
"protein_id": "ENSP00000459603.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 75,
"cds_start": 179,
"cds_end": null,
"cds_length": 228,
"cdna_start": 202,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "XM_011522754.4",
"protein_id": "XP_011521056.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 191,
"cds_start": 269,
"cds_end": null,
"cds_length": 576,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "XM_047434926.1",
"protein_id": "XP_047290882.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 191,
"cds_start": 269,
"cds_end": null,
"cds_length": 576,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "XM_047434927.1",
"protein_id": "XP_047290883.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 191,
"cds_start": 269,
"cds_end": null,
"cds_length": 576,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "XM_047434928.1",
"protein_id": "XP_047290884.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 191,
"cds_start": 269,
"cds_end": null,
"cds_length": 576,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ser90Leu",
"transcript": "XM_047434929.1",
"protein_id": "XP_047290885.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 191,
"cds_start": 269,
"cds_end": null,
"cds_length": 576,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "XM_006720982.4",
"protein_id": "XP_006721045.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 161,
"cds_start": 179,
"cds_end": null,
"cds_length": 486,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LITAF",
"gene_hgnc_id": 16841,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Ser60Leu",
"transcript": "XM_006720983.5",
"protein_id": "XP_006721046.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
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],
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{
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"BS1",
"BS2"
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"clinvar_disease": "Charcot-Marie-Tooth disease type 1C",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Charcot-Marie-Tooth disease type 1C",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}