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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: 9-137107421-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137107421&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 137107421,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016219.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "NM_016219.5",
"protein_id": "NP_057303.2",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 699,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371589.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016219.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "ENST00000371589.9",
"protein_id": "ENSP00000360645.4",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 699,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016219.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371589.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*1415C>G",
"hgvs_p": null,
"transcript": "ENST00000371587.9",
"protein_id": "ENSP00000483132.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000371587.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*60C>G",
"hgvs_p": null,
"transcript": "ENST00000544448.6",
"protein_id": "ENSP00000444966.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000544448.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*1415C>G",
"hgvs_p": null,
"transcript": "ENST00000371587.9",
"protein_id": "ENSP00000483132.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000371587.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "n.*60C>G",
"hgvs_p": null,
"transcript": "ENST00000544448.6",
"protein_id": "ENSP00000444966.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000544448.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "ENST00000682881.1",
"protein_id": "ENSP00000506762.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 796,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682881.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "ENST00000535144.6",
"protein_id": "ENSP00000441398.3",
"transcript_support_level": 2,
"aa_start": 580,
"aa_end": null,
"aa_length": 731,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535144.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1819C>G",
"hgvs_p": "p.Pro607Ala",
"transcript": "ENST00000877685.1",
"protein_id": "ENSP00000547744.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 726,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877685.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "ENST00000682212.1",
"protein_id": "ENSP00000508217.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 725,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682212.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "ENST00000684759.1",
"protein_id": "ENSP00000507818.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 724,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684759.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1807C>G",
"hgvs_p": "p.Pro603Ala",
"transcript": "ENST00000877687.1",
"protein_id": "ENSP00000547746.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 722,
"cds_start": 1807,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877687.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1792C>G",
"hgvs_p": "p.Pro598Ala",
"transcript": "ENST00000916528.1",
"protein_id": "ENSP00000586587.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 717,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916528.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1735C>G",
"hgvs_p": "p.Pro579Ala",
"transcript": "ENST00000683324.1",
"protein_id": "ENSP00000507373.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 698,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683324.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1735C>G",
"hgvs_p": "p.Pro579Ala",
"transcript": "ENST00000916526.1",
"protein_id": "ENSP00000586585.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 698,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916526.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1735C>G",
"hgvs_p": "p.Pro579Ala",
"transcript": "ENST00000916527.1",
"protein_id": "ENSP00000586586.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 698,
"cds_start": 1735,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916527.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1732C>G",
"hgvs_p": "p.Pro578Ala",
"transcript": "ENST00000684144.1",
"protein_id": "ENSP00000508213.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 697,
"cds_start": 1732,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684144.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "ENST00000916531.1",
"protein_id": "ENSP00000586590.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 697,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916531.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Pro580Ala",
"transcript": "ENST00000682117.1",
"protein_id": "ENSP00000507328.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 686,
"cds_start": 1738,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682117.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1681C>G",
"hgvs_p": "p.Pro561Ala",
"transcript": "ENST00000877684.1",
"protein_id": "ENSP00000547743.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 680,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877684.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1675C>G",
"hgvs_p": "p.Pro559Ala",
"transcript": "ENST00000916530.1",
"protein_id": "ENSP00000586589.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 678,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916530.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAN1B1",
"gene_hgnc_id": 6823,
"hgvs_c": "c.1666C>G",
"hgvs_p": "p.Pro556Ala",
"transcript": "ENST00000916529.1",
"protein_id": "ENSP00000586588.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 675,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2028,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
"transcript": "NM_016219.5",
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],
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],
"clinvar_disease": "Inborn genetic diseases,Rafiq syndrome,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|Inborn genetic diseases|Rafiq syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}