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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: 5-7899943-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=7899943&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTRR",
"hgnc_id": 7473,
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_002454.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 5012,
"alphamissense_prediction": null,
"alphamissense_score": 0.1574,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Disorders of Intracellular Cobalamin Metabolism,MTRR-related disorder,Methylcobalamin deficiency type cblE,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009929180145263672,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_002454.3",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440940.7",
"protein_coding": true,
"protein_id": "NP_002445.2",
"strand": true,
"transcript": "NM_002454.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000440940.7",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002454.3",
"protein_coding": true,
"protein_id": "ENSP00000402510.2",
"strand": true,
"transcript": "ENST00000440940.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 725,
"aa_ref": "H",
"aa_start": 688,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3274,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2063,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000264668.6",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.2063A>G",
"hgvs_p": "p.His688Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264668.2",
"strand": true,
"transcript": "ENST00000264668.6",
"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": 2441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000513439.5",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "n.*1689A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426710.1",
"strand": true,
"transcript": "ENST00000513439.5",
"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": 2441,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000513439.5",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "n.*1689A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000426710.1",
"strand": true,
"transcript": "ENST00000513439.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 706,
"aa_ref": "H",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 2121,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869932.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.2006A>G",
"hgvs_p": "p.His669Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539991.1",
"strand": true,
"transcript": "ENST00000869932.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": 2916,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001364440.2",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351369.1",
"strand": true,
"transcript": "NM_001364440.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3748,
"cdna_start": 2578,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001364441.2",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351370.1",
"strand": true,
"transcript": "NM_001364441.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001364442.2",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351371.1",
"strand": true,
"transcript": "NM_001364442.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_024010.4",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076915.3",
"strand": true,
"transcript": "NM_024010.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3299,
"cdna_start": 2129,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869929.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539988.1",
"strand": true,
"transcript": "ENST00000869929.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4790,
"cdna_start": 3604,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000869930.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539989.1",
"strand": true,
"transcript": "ENST00000869930.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 2211,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000869931.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539990.1",
"strand": true,
"transcript": "ENST00000869931.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000924322.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594381.1",
"strand": true,
"transcript": "ENST00000924322.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2182,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000941610.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611669.1",
"strand": true,
"transcript": "ENST00000941610.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 698,
"aa_ref": "H",
"aa_start": 661,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 2670,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1982,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000941611.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.His661Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611670.1",
"strand": true,
"transcript": "ENST00000941611.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 697,
"aa_ref": "H",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1979,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000924323.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.His660Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594382.1",
"strand": true,
"transcript": "ENST00000924323.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 697,
"aa_ref": "H",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 2054,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1979,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000941608.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.His660Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611667.1",
"strand": true,
"transcript": "ENST00000941608.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 697,
"aa_ref": "H",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1979,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000941609.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.His660Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611668.1",
"strand": true,
"transcript": "ENST00000941609.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 626,
"aa_ref": "H",
"aa_start": 589,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2124,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1766,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000941612.1",
"gene_hgnc_id": 7473,
"gene_symbol": "MTRR",
"hgvs_c": "c.1766A>G",
"hgvs_p": "p.His589Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611671.1",
"strand": true,
"transcript": "ENST00000941612.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 608,
"aa_ref": "H",
"aa_start": 571,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1712,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000924324.1",
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"transcript": "NM_002454.3"
}
]
}