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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: X-81119798-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=81119798&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 81119798,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_030763.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "NM_030763.3",
"protein_id": "NP_110390.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 282,
"cds_start": 35,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358130.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030763.3"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000358130.7",
"protein_id": "ENSP00000350848.2",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 282,
"cds_start": 35,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030763.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358130.7"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000430960.5",
"protein_id": "ENSP00000399626.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 147,
"cds_start": 35,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430960.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000916831.1",
"protein_id": "ENSP00000586890.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 321,
"cds_start": 35,
"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": "ENST00000916831.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000966207.1",
"protein_id": "ENSP00000636266.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 320,
"cds_start": 35,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966207.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000883543.1",
"protein_id": "ENSP00000553602.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 283,
"cds_start": 35,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883543.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000916825.1",
"protein_id": "ENSP00000586884.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 283,
"cds_start": 35,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916825.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000966202.1",
"protein_id": "ENSP00000636261.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 283,
"cds_start": 35,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966202.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000966204.1",
"protein_id": "ENSP00000636263.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 282,
"cds_start": 35,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966204.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000966206.1",
"protein_id": "ENSP00000636265.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 282,
"cds_start": 35,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966206.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000916827.1",
"protein_id": "ENSP00000586886.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 273,
"cds_start": 35,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916827.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000883548.1",
"protein_id": "ENSP00000553607.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 272,
"cds_start": 35,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883548.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000883545.1",
"protein_id": "ENSP00000553604.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 264,
"cds_start": 35,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883545.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"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": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000916828.1",
"protein_id": "ENSP00000586887.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 264,
"cds_start": 35,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916828.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000916826.1",
"protein_id": "ENSP00000586885.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 202,
"cds_start": 35,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916826.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000436386.5",
"protein_id": "ENSP00000413402.1",
"transcript_support_level": 5,
"aa_start": 12,
"aa_end": null,
"aa_length": 101,
"cds_start": 35,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436386.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "ENST00000451455.1",
"protein_id": "ENSP00000404810.1",
"transcript_support_level": 3,
"aa_start": 12,
"aa_end": null,
"aa_length": 88,
"cds_start": 35,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451455.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "XM_047442510.1",
"protein_id": "XP_047298466.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 283,
"cds_start": 35,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442510.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Met12Thr",
"transcript": "XM_047442511.1",
"protein_id": "XP_047298467.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 283,
"cds_start": 35,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442511.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.16-1039T>C",
"hgvs_p": null,
"transcript": "ENST00000883544.1",
"protein_id": "ENSP00000553603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": null,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.16-1039T>C",
"hgvs_p": null,
"transcript": "ENST00000916829.1",
"protein_id": "ENSP00000586888.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 273,
"cds_start": null,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916829.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HMGN5",
"gene_hgnc_id": 8013,
"hgvs_c": "c.16-1310T>C",
"hgvs_p": null,
"transcript": "ENST00000883546.1",
"protein_id": "ENSP00000553605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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},
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"effects": [
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"inheritance_mode": "",
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],
"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
}