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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: 2-37646218-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=37646218&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 37646218,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006449.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "NM_006449.5",
"protein_id": "NP_006440.2",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295324.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006449.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000295324.4",
"protein_id": "ENSP00000295324.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006449.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295324.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "NM_001270436.2",
"protein_id": "NP_001257365.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270436.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "NM_001270437.2",
"protein_id": "NP_001257366.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270437.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "NM_001270438.2",
"protein_id": "NP_001257367.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270438.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "NM_001371569.1",
"protein_id": "NP_001358498.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371569.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "NM_001371570.1",
"protein_id": "NP_001358499.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371570.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000611976.1",
"protein_id": "ENSP00000480549.1",
"transcript_support_level": 3,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611976.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000885380.1",
"protein_id": "ENSP00000555439.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885380.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000885381.1",
"protein_id": "ENSP00000555440.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885381.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000885382.1",
"protein_id": "ENSP00000555441.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885382.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000885383.1",
"protein_id": "ENSP00000555442.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885383.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000885384.1",
"protein_id": "ENSP00000555443.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885384.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000927367.1",
"protein_id": "ENSP00000597426.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927367.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000927368.1",
"protein_id": "ENSP00000597427.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927368.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000927369.1",
"protein_id": "ENSP00000597428.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927369.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000927370.1",
"protein_id": "ENSP00000597429.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927370.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000927371.1",
"protein_id": "ENSP00000597430.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927371.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000956783.1",
"protein_id": "ENSP00000626842.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956783.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000956784.1",
"protein_id": "ENSP00000626843.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956784.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000956785.1",
"protein_id": "ENSP00000626844.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956785.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"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": "CDC42EP3",
"gene_hgnc_id": 16943,
"hgvs_c": "c.370T>G",
"hgvs_p": "p.Ser124Ala",
"transcript": "ENST00000956786.1",
"protein_id": "ENSP00000626845.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 254,
"cds_start": 370,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956786.1"
},
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_006449.5",
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"effects": [
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{
"score": -1,
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"verdict": "Likely_benign",
"transcript": "ENST00000419425.1",
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],
"inheritance_mode": "",
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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
}