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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: 3-130979301-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=130979301&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 130979301,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001378511.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "NM_001378687.1",
"protein_id": "NP_001365616.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 919,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000510168.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378687.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "ENST00000510168.6",
"protein_id": "ENSP00000427461.1",
"transcript_support_level": 5,
"aa_start": 541,
"aa_end": null,
"aa_length": 919,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378687.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510168.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "ENST00000359644.7",
"protein_id": "ENSP00000352665.3",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 949,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359644.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "ENST00000422190.6",
"protein_id": "ENSP00000402677.2",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 939,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422190.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1575G>C",
"hgvs_p": "p.Leu525Phe",
"transcript": "ENST00000513801.5",
"protein_id": "ENSP00000422872.1",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 923,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513801.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "ENST00000428331.6",
"protein_id": "ENSP00000395809.2",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 919,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428331.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "ENST00000508532.5",
"protein_id": "ENSP00000424783.1",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 919,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508532.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1575G>C",
"hgvs_p": "p.Leu525Phe",
"transcript": "ENST00000504948.5",
"protein_id": "ENSP00000423330.1",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 903,
"cds_start": 1575,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504948.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "ENST00000328560.12",
"protein_id": "ENSP00000329664.8",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 888,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328560.12"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "ENST00000533801.6",
"protein_id": "ENSP00000432956.3",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 888,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533801.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "n.1793G>C",
"hgvs_p": null,
"transcript": "ENST00000514654.5",
"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": "ENST00000514654.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1725G>C",
"hgvs_p": "p.Leu575Phe",
"transcript": "NM_001378511.1",
"protein_id": "NP_001365440.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 983,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378511.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1725G>C",
"hgvs_p": "p.Leu575Phe",
"transcript": "NM_001199180.2",
"protein_id": "NP_001186109.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 973,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199180.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1725G>C",
"hgvs_p": "p.Leu575Phe",
"transcript": "ENST00000507488.6",
"protein_id": "ENSP00000421326.3",
"transcript_support_level": 2,
"aa_start": 575,
"aa_end": null,
"aa_length": 973,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2922,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507488.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1725G>C",
"hgvs_p": "p.Leu575Phe",
"transcript": "NM_001199181.3",
"protein_id": "NP_001186110.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 953,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199181.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1725G>C",
"hgvs_p": "p.Leu575Phe",
"transcript": "ENST00000505330.5",
"protein_id": "ENSP00000423774.2",
"transcript_support_level": 2,
"aa_start": 575,
"aa_end": null,
"aa_length": 953,
"cds_start": 1725,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505330.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "NM_001001486.2",
"protein_id": "NP_001001486.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 949,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001486.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "NM_001378512.1",
"protein_id": "NP_001365441.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 949,
"cds_start": 1623,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378512.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1608G>C",
"hgvs_p": "p.Leu536Phe",
"transcript": "NM_001199182.2",
"protein_id": "NP_001186111.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 944,
"cds_start": 1608,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199182.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1608G>C",
"hgvs_p": "p.Leu536Phe",
"transcript": "ENST00000504381.5",
"protein_id": "ENSP00000425320.2",
"transcript_support_level": 2,
"aa_start": 536,
"aa_end": null,
"aa_length": 944,
"cds_start": 1608,
"cds_end": null,
"cds_length": 2835,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504381.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1686G>C",
"hgvs_p": "p.Leu562Phe",
"transcript": "ENST00000950719.1",
"protein_id": "ENSP00000620778.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 940,
"cds_start": 1686,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950719.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2C1",
"gene_hgnc_id": 13211,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Leu541Phe",
"transcript": "NM_001001487.2",
"protein_id": "NP_001001487.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
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"bayesdelnoaf_score": 0.16,
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{
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"inheritance_mode": "AD",
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],
"clinvar_disease": "ATP2C1-related disorder,Familial benign pemphigus,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not provided|Familial benign pemphigus|ATP2C1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}