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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: 13-77559817-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=77559817&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SCEL",
"hgnc_id": 10573,
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_144777.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_score": 3,
"allele_count_reference_population": 18,
"alphamissense_prediction": null,
"alphamissense_score": 0.4265,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "13",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Moyamoya angiopathy",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6094576120376587,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 688,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 313,
"cds_end": null,
"cds_length": 2067,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_144777.3",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000349847.4",
"protein_coding": true,
"protein_id": "NP_659001.2",
"strand": true,
"transcript": "NM_144777.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 688,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3194,
"cdna_start": 313,
"cds_end": null,
"cds_length": 2067,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000349847.4",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144777.3",
"protein_coding": true,
"protein_id": "ENSP00000302579.5",
"strand": true,
"transcript": "ENST00000349847.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 260,
"cds_end": null,
"cds_length": 2007,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000377246.7",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366454.3",
"strand": true,
"transcript": "ENST00000377246.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 313,
"cds_end": null,
"cds_length": 2064,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856158.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526217.1",
"strand": true,
"transcript": "ENST00000856158.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3186,
"cdna_start": 313,
"cds_end": null,
"cds_length": 2064,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856162.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526221.1",
"strand": true,
"transcript": "ENST00000856162.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 686,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3180,
"cdna_start": 311,
"cds_end": null,
"cds_length": 2061,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965443.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635502.1",
"strand": true,
"transcript": "ENST00000965443.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 681,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3167,
"cdna_start": 309,
"cds_end": null,
"cds_length": 2046,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965440.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635499.1",
"strand": true,
"transcript": "ENST00000965440.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 675,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 313,
"cds_end": null,
"cds_length": 2028,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856139.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526198.1",
"strand": true,
"transcript": "ENST00000856139.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3134,
"cdna_start": 313,
"cds_end": null,
"cds_length": 2007,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_003843.4",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003834.3",
"strand": true,
"transcript": "NM_003843.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 668,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 352,
"cds_end": null,
"cds_length": 2007,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856144.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526203.1",
"strand": true,
"transcript": "ENST00000856144.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 667,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 333,
"cds_end": null,
"cds_length": 2004,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856183.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526242.1",
"strand": true,
"transcript": "ENST00000856183.1",
"transcript_support_level": null
},
{
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"aa_length": 666,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3132,
"cdna_start": 322,
"cds_end": null,
"cds_length": 2001,
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"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856156.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526215.1",
"strand": true,
"transcript": "ENST00000856156.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 275,
"cds_end": null,
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"consequences": [
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],
"exon_count": 32,
"exon_rank": 4,
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"feature": "ENST00000856170.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526229.1",
"strand": true,
"transcript": "ENST00000856170.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 664,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4274,
"cdna_start": 380,
"cds_end": null,
"cds_length": 1995,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965414.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635473.1",
"strand": true,
"transcript": "ENST00000965414.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 334,
"cds_end": null,
"cds_length": 1995,
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"consequences": [
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],
"exon_count": 32,
"exon_rank": 4,
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"feature": "ENST00000965424.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635483.1",
"strand": true,
"transcript": "ENST00000965424.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 664,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": 315,
"cds_end": null,
"cds_length": 1995,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965431.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635490.1",
"strand": true,
"transcript": "ENST00000965431.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 664,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 311,
"cds_end": null,
"cds_length": 1995,
"cds_start": 175,
"consequences": [
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],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965441.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635500.1",
"strand": true,
"transcript": "ENST00000965441.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 259,
"cds_end": null,
"cds_length": 1959,
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"consequences": [
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],
"exon_count": 31,
"exon_rank": 4,
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"feature": "ENST00000856188.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526247.1",
"strand": true,
"transcript": "ENST00000856188.1",
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},
{
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"cds_end": null,
"cds_length": 1950,
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"consequences": [
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],
"exon_count": 31,
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"exon_rank_end": null,
"feature": "ENST00000856137.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000526196.1",
"strand": true,
"transcript": "ENST00000856137.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 260,
"cds_end": null,
"cds_length": 1947,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856173.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526232.1",
"strand": true,
"transcript": "ENST00000856173.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 647,
"aa_ref": "G",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3068,
"cdna_start": 313,
"cds_end": null,
"cds_length": 1944,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000856160.1",
"gene_hgnc_id": 10573,
"gene_symbol": "SCEL",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Gly59Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526219.1",
"strand": true,
"transcript": "ENST00000856160.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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