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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: 16-15598856-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15598856&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15598856,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_014647.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4982C>G",
"hgvs_p": "p.Ser1661Cys",
"transcript": "NM_014647.4",
"protein_id": "NP_055462.2",
"transcript_support_level": null,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4982,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5177,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "ENST00000396368.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4982C>G",
"hgvs_p": "p.Ser1661Cys",
"transcript": "ENST00000396368.8",
"protein_id": "ENSP00000379654.3",
"transcript_support_level": 1,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4982,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5177,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": "NM_014647.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4982C>G",
"hgvs_p": "p.Ser1661Cys",
"transcript": "ENST00000551742.5",
"protein_id": "ENSP00000450309.1",
"transcript_support_level": 1,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4982,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5131,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4973C>G",
"hgvs_p": "p.Ser1658Cys",
"transcript": "ENST00000548025.5",
"protein_id": "ENSP00000449376.1",
"transcript_support_level": 1,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4973,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 5122,
"cdna_end": null,
"cdna_length": 5891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4982C>G",
"hgvs_p": "p.Ser1661Cys",
"transcript": "NM_001184998.2",
"protein_id": "NP_001171927.1",
"transcript_support_level": null,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4982,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5177,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4973C>G",
"hgvs_p": "p.Ser1658Cys",
"transcript": "NM_001184999.2",
"protein_id": "NP_001171928.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4973,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 5168,
"cdna_end": null,
"cdna_length": 7721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4487C>G",
"hgvs_p": "p.Ser1496Cys",
"transcript": "ENST00000540441.6",
"protein_id": "ENSP00000439819.2",
"transcript_support_level": 5,
"aa_start": 1496,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4487,
"cds_end": null,
"cds_length": 4734,
"cdna_start": 4552,
"cdna_end": null,
"cdna_length": 7105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4985C>G",
"hgvs_p": "p.Ser1662Cys",
"transcript": "XM_005255704.2",
"protein_id": "XP_005255761.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4985,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5180,
"cdna_end": null,
"cdna_length": 7733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4985C>G",
"hgvs_p": "p.Ser1662Cys",
"transcript": "XM_017023900.3",
"protein_id": "XP_016879389.1",
"transcript_support_level": null,
"aa_start": 1662,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4985,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 5207,
"cdna_end": null,
"cdna_length": 7760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4982C>G",
"hgvs_p": "p.Ser1661Cys",
"transcript": "XM_017023901.3",
"protein_id": "XP_016879390.1",
"transcript_support_level": null,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4982,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5204,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4982C>G",
"hgvs_p": "p.Ser1661Cys",
"transcript": "XM_047434938.1",
"protein_id": "XP_047290894.1",
"transcript_support_level": null,
"aa_start": 1661,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4982,
"cds_end": null,
"cds_length": 5229,
"cdna_start": 5204,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4979C>G",
"hgvs_p": "p.Ser1660Cys",
"transcript": "XM_005255706.3",
"protein_id": "XP_005255763.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4979,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 5174,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4979C>G",
"hgvs_p": "p.Ser1660Cys",
"transcript": "XM_047434939.1",
"protein_id": "XP_047290895.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4979,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 5201,
"cdna_end": null,
"cdna_length": 7754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4955C>G",
"hgvs_p": "p.Ser1652Cys",
"transcript": "XM_005255707.3",
"protein_id": "XP_005255764.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4955,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 5150,
"cdna_end": null,
"cdna_length": 7703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4955C>G",
"hgvs_p": "p.Ser1652Cys",
"transcript": "XM_047434940.1",
"protein_id": "XP_047290896.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4955,
"cds_end": null,
"cds_length": 5202,
"cdna_start": 5177,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4952C>G",
"hgvs_p": "p.Ser1651Cys",
"transcript": "XM_047434941.1",
"protein_id": "XP_047290897.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4952,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5147,
"cdna_end": null,
"cdna_length": 7700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4952C>G",
"hgvs_p": "p.Ser1651Cys",
"transcript": "XM_047434942.1",
"protein_id": "XP_047290898.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4952,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 5174,
"cdna_end": null,
"cdna_length": 7727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4823C>G",
"hgvs_p": "p.Ser1608Cys",
"transcript": "XM_017023902.3",
"protein_id": "XP_016879391.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1689,
"cds_start": 4823,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 5018,
"cdna_end": null,
"cdna_length": 7571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4820C>G",
"hgvs_p": "p.Ser1607Cys",
"transcript": "XM_047434943.1",
"protein_id": "XP_047290899.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4820,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5015,
"cdna_end": null,
"cdna_length": 7568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4820C>G",
"hgvs_p": "p.Ser1607Cys",
"transcript": "XM_047434944.1",
"protein_id": "XP_047290900.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1688,
"cds_start": 4820,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 5042,
"cdna_end": null,
"cdna_length": 7595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4556C>G",
"hgvs_p": "p.Ser1519Cys",
"transcript": "XM_017023903.3",
"protein_id": "XP_016879392.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1600,
"cds_start": 4556,
"cds_end": null,
"cds_length": 4803,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 7304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4553C>G",
"hgvs_p": "p.Ser1518Cys",
"transcript": "XM_017023904.3",
"protein_id": "XP_016879393.1",
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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
}