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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: 17-81208978-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81208978&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81208978,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001319228.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "NM_014984.4",
"protein_id": "NP_055799.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1080,
"cds_start": 222,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000450824.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014984.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000450824.7",
"protein_id": "ENSP00000393583.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1080,
"cds_start": 222,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014984.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450824.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000269392.8",
"protein_id": "ENSP00000269392.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1083,
"cds_start": 222,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269392.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000575907.5",
"protein_id": "ENSP00000459733.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1047,
"cds_start": 222,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575907.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000936463.1",
"protein_id": "ENSP00000606522.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1135,
"cds_start": 222,
"cds_end": null,
"cds_length": 3408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936463.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "NM_001319228.2",
"protein_id": "NP_001306157.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1083,
"cds_start": 222,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319228.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000908011.1",
"protein_id": "ENSP00000578070.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1083,
"cds_start": 222,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908011.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000908012.1",
"protein_id": "ENSP00000578071.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1081,
"cds_start": 222,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908012.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000908015.1",
"protein_id": "ENSP00000578074.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1080,
"cds_start": 222,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908015.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000936462.1",
"protein_id": "ENSP00000606521.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1080,
"cds_start": 222,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936462.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000908016.1",
"protein_id": "ENSP00000578075.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1079,
"cds_start": 222,
"cds_end": null,
"cds_length": 3240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908016.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000908017.1",
"protein_id": "ENSP00000578076.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1078,
"cds_start": 222,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908017.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000936465.1",
"protein_id": "ENSP00000606524.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1075,
"cds_start": 222,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936465.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000936464.1",
"protein_id": "ENSP00000606523.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1073,
"cds_start": 222,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936464.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000971920.1",
"protein_id": "ENSP00000641979.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1068,
"cds_start": 222,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971920.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000936461.1",
"protein_id": "ENSP00000606520.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1065,
"cds_start": 222,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936461.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000908009.1",
"protein_id": "ENSP00000578068.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1049,
"cds_start": 222,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908009.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000908014.1",
"protein_id": "ENSP00000578073.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1049,
"cds_start": 222,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908014.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "NM_001319229.2",
"protein_id": "NP_001306158.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1047,
"cds_start": 222,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319229.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "NM_001009811.4",
"protein_id": "NP_001009811.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1044,
"cds_start": 222,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001009811.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000374782.7",
"protein_id": "ENSP00000363914.3",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 1044,
"cds_start": 222,
"cds_end": null,
"cds_length": 3135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374782.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP131",
"gene_hgnc_id": 29511,
"hgvs_c": "c.222A>T",
"hgvs_p": "p.Arg74Ser",
"transcript": "ENST00000971921.1",
"protein_id": "ENSP00000641980.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1043,
"cds_start": 222,
"cds_end": null,
"cds_length": 3132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971921.1"
},
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