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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: 19-41709922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41709922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CEACAM5",
"hgnc_id": 1817,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_004363.6",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000267881",
"hgnc_id": null,
"hgvs_c": "c.64+1127C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000435837.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 1445,
"alphamissense_prediction": null,
"alphamissense_score": 0.0817,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"chr": "19",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005528658628463745,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 413,
"cds_end": null,
"cds_length": 2109,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004363.6",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000221992.11",
"protein_coding": true,
"protein_id": "NP_004354.3",
"strand": true,
"transcript": "NM_004363.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": 413,
"cds_end": null,
"cds_length": 2109,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000221992.11",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004363.6",
"protein_coding": true,
"protein_id": "ENSP00000221992.5",
"strand": true,
"transcript": "ENST00000221992.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 390,
"cds_end": null,
"cds_length": 2109,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000405816.5",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385072.1",
"strand": true,
"transcript": "ENST00000405816.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 390,
"cds_end": null,
"cds_length": 2109,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000617332.4",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482303.1",
"strand": true,
"transcript": "ENST00000617332.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 524,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1694,
"cdna_start": 390,
"cds_end": null,
"cds_length": 1575,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000615021.4",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482157.1",
"strand": true,
"transcript": "ENST00000615021.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 66,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 277,
"cdna_start": null,
"cds_end": null,
"cds_length": 202,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435837.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267881",
"hgvs_c": "c.64+1127C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469926.1",
"strand": true,
"transcript": "ENST00000435837.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000596606.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "n.413C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000596606.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 718,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 417,
"cds_end": null,
"cds_length": 2157,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888534.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558593.1",
"strand": true,
"transcript": "ENST00000888534.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 715,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2148,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888526.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558585.1",
"strand": true,
"transcript": "ENST00000888526.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 702,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 413,
"cds_end": null,
"cds_length": 2109,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001291484.3",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278413.1",
"strand": true,
"transcript": "NM_001291484.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 701,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3584,
"cdna_start": 413,
"cds_end": null,
"cds_length": 2106,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001308398.3",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295327.1",
"strand": true,
"transcript": "NM_001308398.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 701,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 413,
"cds_end": null,
"cds_length": 2106,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001440320.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427249.1",
"strand": true,
"transcript": "NM_001440320.1",
"transcript_support_level": null
},
{
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"aa_length": 701,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2451,
"cdna_start": 454,
"cds_end": null,
"cds_length": 2106,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000398599.8",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381600.4",
"strand": true,
"transcript": "ENST00000398599.8",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 701,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 417,
"cds_end": null,
"cds_length": 2106,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888517.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558576.1",
"strand": true,
"transcript": "ENST00000888517.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 701,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2930,
"cdna_start": 417,
"cds_end": null,
"cds_length": 2106,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888519.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558578.1",
"strand": true,
"transcript": "ENST00000888519.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 701,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2106,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948423.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618482.1",
"strand": true,
"transcript": "ENST00000948423.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 699,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 398,
"cds_end": null,
"cds_length": 2100,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888532.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558591.1",
"strand": true,
"transcript": "ENST00000888532.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": 398,
"cds_end": null,
"cds_length": 2097,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888515.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558574.1",
"strand": true,
"transcript": "ENST00000888515.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 691,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 412,
"cds_end": null,
"cds_length": 2076,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888514.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558573.1",
"strand": true,
"transcript": "ENST00000888514.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 685,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 417,
"cds_end": null,
"cds_length": 2058,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000888512.1",
"gene_hgnc_id": 1817,
"gene_symbol": "CEACAM5",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Pro103Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558571.1",
"strand": true,
"transcript": "ENST00000888512.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 685,
"aa_ref": "P",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
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