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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: 2-154242787-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=154242787&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GALNT13",
"hgnc_id": 23242,
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001376403.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9829,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8790961503982544,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_052917.4",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392825.8",
"protein_coding": true,
"protein_id": "NP_443149.2",
"strand": true,
"transcript": "NM_052917.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5657,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000392825.8",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052917.4",
"protein_coding": true,
"protein_id": "ENSP00000376570.3",
"strand": true,
"transcript": "ENST00000392825.8",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1686,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409237.5",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387239.1",
"strand": true,
"transcript": "ENST00000409237.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000431076.5",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "n.*388C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389447.1",
"strand": true,
"transcript": "ENST00000431076.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1642,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000431076.5",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "n.*388C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389447.1",
"strand": true,
"transcript": "ENST00000431076.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5926,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1716,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001376403.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363332.1",
"strand": true,
"transcript": "NM_001376403.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6053,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1716,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001376404.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363333.1",
"strand": true,
"transcript": "NM_001376404.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8281,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1716,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001422879.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001409808.1",
"strand": true,
"transcript": "NM_001422879.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3122,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1716,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891929.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561988.1",
"strand": true,
"transcript": "ENST00000891929.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 571,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1716,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891932.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561991.1",
"strand": true,
"transcript": "ENST00000891932.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 565,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2371,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1698,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952436.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622495.1",
"strand": true,
"transcript": "ENST00000952436.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 561,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6023,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1686,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001301627.2",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288556.1",
"strand": true,
"transcript": "NM_001301627.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5728,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001376392.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363321.1",
"strand": true,
"transcript": "NM_001376392.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6065,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001376394.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363323.1",
"strand": true,
"transcript": "NM_001376394.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6155,
"cdna_start": 1426,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001376398.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363327.1",
"strand": true,
"transcript": "NM_001376398.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6971,
"cdna_start": 2242,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001376400.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363329.1",
"strand": true,
"transcript": "NM_001376400.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7152,
"cdna_start": 2423,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001376401.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363330.1",
"strand": true,
"transcript": "NM_001376401.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7188,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001376402.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363331.1",
"strand": true,
"transcript": "NM_001376402.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8083,
"cdna_start": 957,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001422880.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001409809.1",
"strand": true,
"transcript": "NM_001422880.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8295,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001422881.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001409810.1",
"strand": true,
"transcript": "NM_001422881.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 556,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8631,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1671,
"cds_start": 568,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001422882.1",
"gene_hgnc_id": 23242,
"gene_symbol": "GALNT13",
"hgvs_c": "c.568C>A",
"hgvs_p": "p.Arg190Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001409811.1",
"strand": true,
"transcript": "NM_001422882.1",
"transcript_support_level": null
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