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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: 9-137449928-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137449928&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137449928,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001130969.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Glu472Lys",
"transcript": "NM_001130969.3",
"protein_id": "NP_001124441.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 530,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371475.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130969.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1414G>A",
"hgvs_p": "p.Glu472Lys",
"transcript": "ENST00000371475.9",
"protein_id": "ENSP00000360530.3",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 530,
"cds_start": 1414,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130969.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371475.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"transcript": "ENST00000265663.12",
"protein_id": "ENSP00000265663.7",
"transcript_support_level": 1,
"aa_start": 470,
"aa_end": null,
"aa_length": 528,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265663.12"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"transcript": "ENST00000371472.6",
"protein_id": "ENSP00000360527.1",
"transcript_support_level": 2,
"aa_start": 470,
"aa_end": null,
"aa_length": 528,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371472.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Glu447Lys",
"transcript": "ENST00000371474.7",
"protein_id": "ENSP00000360529.3",
"transcript_support_level": 1,
"aa_start": 447,
"aa_end": null,
"aa_length": 505,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371474.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Glu442Lys",
"transcript": "ENST00000371473.7",
"protein_id": "ENSP00000360528.3",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 500,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371473.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "n.1540G>A",
"hgvs_p": null,
"transcript": "ENST00000371482.5",
"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": "ENST00000371482.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Glu545Lys",
"transcript": "ENST00000934994.1",
"protein_id": "ENSP00000605053.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 603,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934994.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1594G>A",
"hgvs_p": "p.Glu532Lys",
"transcript": "ENST00000935000.1",
"protein_id": "ENSP00000605059.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 590,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935000.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Glu522Lys",
"transcript": "ENST00000934996.1",
"protein_id": "ENSP00000605055.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 580,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934996.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Glu484Lys",
"transcript": "ENST00000961356.1",
"protein_id": "ENSP00000631415.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 542,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961356.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Glu478Lys",
"transcript": "ENST00000861168.1",
"protein_id": "ENSP00000531227.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 536,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861168.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"transcript": "NM_015537.5",
"protein_id": "NP_056352.3",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 528,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015537.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"transcript": "ENST00000934993.1",
"protein_id": "ENSP00000605052.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 528,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934993.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Glu470Lys",
"transcript": "ENST00000934998.1",
"protein_id": "ENSP00000605057.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 525,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934998.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Glu467Lys",
"transcript": "ENST00000961354.1",
"protein_id": "ENSP00000631413.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 525,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961354.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Glu467Lys",
"transcript": "ENST00000961355.1",
"protein_id": "ENSP00000631414.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 525,
"cds_start": 1399,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961355.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Glu465Lys",
"transcript": "ENST00000934995.1",
"protein_id": "ENSP00000605054.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 523,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934995.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "NM_001130970.2",
"protein_id": "NP_001124442.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 507,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130970.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "ENST00000437259.5",
"protein_id": "ENSP00000412007.1",
"transcript_support_level": 5,
"aa_start": 449,
"aa_end": null,
"aa_length": 507,
"cds_start": 1345,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437259.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1339G>A",
"hgvs_p": "p.Glu447Lys",
"transcript": "NM_001130971.2",
"protein_id": "NP_001124443.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 505,
"cds_start": 1339,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130971.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMF",
"gene_hgnc_id": 29843,
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Glu444Lys",
"transcript": "ENST00000934999.1",
"protein_id": "ENSP00000605058.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 502,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"PP3"
],
"verdict": "Uncertain_significance",
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"inheritance_mode": "AD",
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{
"score": 3,
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}