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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: 1-5877257-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=5877257&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 5877257,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015102.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2653A>C",
"hgvs_p": "p.Ser885Arg",
"transcript": "NM_015102.5",
"protein_id": "NP_055917.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": "ENST00000378156.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015102.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2653A>C",
"hgvs_p": "p.Ser885Arg",
"transcript": "ENST00000378156.9",
"protein_id": "ENSP00000367398.4",
"transcript_support_level": 1,
"aa_start": 885,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 2873,
"cdna_end": null,
"cdna_length": 4955,
"mane_select": "NM_015102.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378156.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*1554A>C",
"hgvs_p": null,
"transcript": "ENST00000378169.7",
"protein_id": "ENSP00000367411.3",
"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": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378169.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*201A>C",
"hgvs_p": null,
"transcript": "ENST00000489180.6",
"protein_id": "ENSP00000423747.1",
"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": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489180.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*1554A>C",
"hgvs_p": null,
"transcript": "ENST00000378169.7",
"protein_id": "ENSP00000367411.3",
"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": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000378169.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "n.*201A>C",
"hgvs_p": null,
"transcript": "ENST00000489180.6",
"protein_id": "ENSP00000423747.1",
"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": 5548,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000489180.6"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2653A>C",
"hgvs_p": "p.Ser885Arg",
"transcript": "ENST00000923561.1",
"protein_id": "ENSP00000593620.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 4865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923561.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2653A>C",
"hgvs_p": "p.Ser885Arg",
"transcript": "ENST00000923565.1",
"protein_id": "ENSP00000593624.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1426,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4281,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923565.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000892397.1",
"protein_id": "ENSP00000562456.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1425,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 2889,
"cdna_end": null,
"cdna_length": 4971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892397.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000892402.1",
"protein_id": "ENSP00000562461.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1425,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 5069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892402.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000923562.1",
"protein_id": "ENSP00000593621.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1425,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 2775,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923562.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000923564.1",
"protein_id": "ENSP00000593623.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1425,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 2890,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923564.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000955275.1",
"protein_id": "ENSP00000625334.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1425,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4278,
"cdna_start": 3570,
"cdna_end": null,
"cdna_length": 5645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955275.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2653A>C",
"hgvs_p": "p.Ser885Arg",
"transcript": "ENST00000955267.1",
"protein_id": "ENSP00000625326.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1423,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4272,
"cdna_start": 2900,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955267.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000955271.1",
"protein_id": "ENSP00000625330.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1422,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4269,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 4929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955271.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2638A>C",
"hgvs_p": "p.Ser880Arg",
"transcript": "ENST00000955273.1",
"protein_id": "ENSP00000625332.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1421,
"cds_start": 2638,
"cds_end": null,
"cds_length": 4266,
"cdna_start": 2885,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955273.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2653A>C",
"hgvs_p": "p.Ser885Arg",
"transcript": "ENST00000955266.1",
"protein_id": "ENSP00000625325.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 1412,
"cds_start": 2653,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 2939,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955266.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000892399.1",
"protein_id": "ENSP00000562458.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1411,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 2872,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892399.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2650A>C",
"hgvs_p": "p.Ser884Arg",
"transcript": "ENST00000955269.1",
"protein_id": "ENSP00000625328.1",
"transcript_support_level": null,
"aa_start": 884,
"aa_end": null,
"aa_length": 1411,
"cds_start": 2650,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 2859,
"cdna_end": null,
"cdna_length": 4897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955269.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2545A>C",
"hgvs_p": "p.Ser849Arg",
"transcript": "ENST00000892395.1",
"protein_id": "ENSP00000562454.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1390,
"cds_start": 2545,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 2801,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892395.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2545A>C",
"hgvs_p": "p.Ser849Arg",
"transcript": "ENST00000955272.1",
"protein_id": "ENSP00000625331.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1390,
"cds_start": 2545,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 3047,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955272.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHP4",
"gene_hgnc_id": 19104,
"hgvs_c": "c.2542A>C",
"hgvs_p": "p.Ser848Arg",
"transcript": "ENST00000955268.1",
"protein_id": "ENSP00000625327.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1389,
"cds_start": 2542,
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{
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:1",
"phenotype_combined": "not provided|Nephronophthisis 4;Senior-Loken syndrome 4|Nephronophthisis|NPHP4-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}