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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: 11-93479122-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=93479122&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 93479122,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020179.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "NM_020179.3",
"protein_id": "NP_064564.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000298966.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020179.3"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000298966.7",
"protein_id": "ENSP00000298966.2",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020179.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298966.7"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000526869.1",
"protein_id": "ENSP00000435827.1",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 46,
"cds_start": 68,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526869.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000525141.1",
"protein_id": "ENSP00000431781.1",
"transcript_support_level": 2,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525141.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000527149.5",
"protein_id": "ENSP00000433555.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527149.5"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888171.1",
"protein_id": "ENSP00000558230.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888171.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888172.1",
"protein_id": "ENSP00000558231.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888172.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888173.1",
"protein_id": "ENSP00000558232.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888173.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888174.1",
"protein_id": "ENSP00000558233.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888174.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888175.1",
"protein_id": "ENSP00000558234.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888175.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888176.1",
"protein_id": "ENSP00000558235.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888176.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888177.1",
"protein_id": "ENSP00000558236.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888177.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888178.1",
"protein_id": "ENSP00000558237.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888178.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888179.1",
"protein_id": "ENSP00000558238.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888179.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888180.1",
"protein_id": "ENSP00000558239.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888180.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888181.1",
"protein_id": "ENSP00000558240.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888181.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888182.1",
"protein_id": "ENSP00000558241.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888182.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888183.1",
"protein_id": "ENSP00000558242.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888183.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888184.1",
"protein_id": "ENSP00000558243.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888184.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888185.1",
"protein_id": "ENSP00000558244.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888185.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888186.1",
"protein_id": "ENSP00000558245.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888186.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMCO4",
"gene_hgnc_id": 24810,
"hgvs_c": "c.68T>G",
"hgvs_p": "p.Met23Arg",
"transcript": "ENST00000888187.1",
"protein_id": "ENSP00000558246.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 59,
"cds_start": 68,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888187.1"
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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{
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{
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{
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{
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{
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{
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],
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"feature": "XM_047427266.1"
}
],
"gene_symbol": "SMCO4",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6455572843551636,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.51,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020179.3",
"gene_symbol": "SMCO4",
"hgnc_id": 24810,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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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
}