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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: 12-57628217-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57628217&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57628217,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001413967.1",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "NM_001478.5",
"protein_id": "NP_001469.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 533,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341156.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001478.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "ENST00000341156.9",
"protein_id": "ENSP00000341562.4",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 533,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001478.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341156.9"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Lys395Glu",
"transcript": "NM_001413967.1",
"protein_id": "NP_001400896.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 589,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413967.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Lys395Glu",
"transcript": "NM_001413968.1",
"protein_id": "NP_001400897.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 578,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413968.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Lys395Glu",
"transcript": "NM_001413969.1",
"protein_id": "NP_001400898.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 578,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413969.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1183A>G",
"hgvs_p": "p.Lys395Glu",
"transcript": "ENST00000882412.1",
"protein_id": "ENSP00000552471.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 578,
"cds_start": 1183,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882412.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "NM_001413970.1",
"protein_id": "NP_001400899.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 544,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413970.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "NM_001413971.1",
"protein_id": "NP_001400900.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 544,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413971.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "NM_001413972.1",
"protein_id": "NP_001400901.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 544,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413972.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "NM_001413973.1",
"protein_id": "NP_001400902.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 533,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413973.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "NM_001413974.1",
"protein_id": "NP_001400903.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 533,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413974.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1048A>G",
"hgvs_p": "p.Lys350Glu",
"transcript": "ENST00000954202.1",
"protein_id": "ENSP00000624261.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 533,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954202.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Lys317Glu",
"transcript": "NM_001413977.1",
"protein_id": "NP_001400906.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 500,
"cds_start": 949,
"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": "NM_001413977.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Lys295Glu",
"transcript": "NM_001276468.2",
"protein_id": "NP_001263397.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 478,
"cds_start": 883,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276468.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Lys295Glu",
"transcript": "NM_001413978.1",
"protein_id": "NP_001400907.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 478,
"cds_start": 883,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413978.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Lys295Glu",
"transcript": "ENST00000418555.6",
"protein_id": "ENSP00000401601.2",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 478,
"cds_start": 883,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418555.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Lys295Glu",
"transcript": "ENST00000954201.1",
"protein_id": "ENSP00000624260.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 478,
"cds_start": 883,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954201.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.196A>G",
"hgvs_p": "p.Lys66Glu",
"transcript": "NM_001413981.1",
"protein_id": "NP_001400910.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 249,
"cds_start": 196,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413981.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Lys21Glu",
"transcript": "NM_001413982.1",
"protein_id": "NP_001400911.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 215,
"cds_start": 61,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413982.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Lys21Glu",
"transcript": "NM_001413983.1",
"protein_id": "NP_001400912.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 204,
"cds_start": 61,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413983.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Lys21Glu",
"transcript": "NM_001413984.1",
"protein_id": "NP_001400913.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 204,
"cds_start": 61,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413984.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.61A>G",
"hgvs_p": "p.Lys21Glu",
"transcript": "ENST00000547741.1",
"protein_id": "ENSP00000448577.1",
"transcript_support_level": 4,
"aa_start": 21,
"aa_end": null,
"aa_length": 149,
"cds_start": 61,
"cds_end": null,
"cds_length": 451,
"cdna_start": null,
"cdna_end": null,
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"acmg_by_gene": [
{
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],
"clinvar_disease": "Hereditary spastic paraplegia 26,Spastic paraplegia,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Spastic paraplegia|not provided|Hereditary spastic paraplegia 26",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}