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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: 17-75266796-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75266796&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MIF4GD",
"hgnc_id": 24030,
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001242498.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MRPS7",
"hgnc_id": 14499,
"hgvs_c": "c.*43+830C>T",
"hgvs_p": null,
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000886316.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.0963,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22984907031059265,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 751,
"cds_end": null,
"cds_length": 669,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001370592.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000325102.13",
"protein_coding": true,
"protein_id": "NP_001357521.1",
"strand": false,
"transcript": "NM_001370592.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1319,
"cdna_start": 751,
"cds_end": null,
"cds_length": 669,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000325102.13",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370592.1",
"protein_coding": true,
"protein_id": "ENSP00000321625.8",
"strand": false,
"transcript": "ENST00000325102.13",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 222,
"aa_ref": "G",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 832,
"cds_end": null,
"cds_length": 669,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000618645.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.613G>A",
"hgvs_p": "p.Gly205Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484245.1",
"strand": false,
"transcript": "ENST00000618645.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 292,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1471,
"cdna_start": 903,
"cds_end": null,
"cds_length": 879,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886607.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556666.1",
"strand": false,
"transcript": "ENST00000886607.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 292,
"aa_ref": "G",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 879,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941500.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Gly275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611559.1",
"strand": false,
"transcript": "ENST00000941500.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1400,
"cdna_start": 832,
"cds_end": null,
"cds_length": 873,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000581777.2",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Gly273Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463493.2",
"strand": false,
"transcript": "ENST00000581777.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 874,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001242498.2",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229427.1",
"strand": false,
"transcript": "NM_001242498.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 922,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365751.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352680.1",
"strand": false,
"transcript": "NM_001365751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1531,
"cdna_start": 999,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000577542.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463334.1",
"strand": false,
"transcript": "ENST00000577542.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579194.6",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462655.2",
"strand": false,
"transcript": "ENST00000579194.6",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1419,
"cdna_start": 870,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000579297.5",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462459.1",
"strand": false,
"transcript": "ENST00000579297.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1935,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886603.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556662.1",
"strand": false,
"transcript": "ENST00000886603.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000886605.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556664.1",
"strand": false,
"transcript": "ENST00000886605.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1043,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886611.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556670.1",
"strand": false,
"transcript": "ENST00000886611.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886613.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556672.1",
"strand": false,
"transcript": "ENST00000886613.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "G",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1913,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 792,
"cds_start": 736,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886614.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.736G>A",
"hgvs_p": "p.Gly246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556673.1",
"strand": false,
"transcript": "ENST00000886614.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": 775,
"cds_end": null,
"cds_length": 771,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001242500.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229429.1",
"strand": false,
"transcript": "NM_001242500.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1421,
"cdna_start": 853,
"cds_end": null,
"cds_length": 771,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_020679.4",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065730.2",
"strand": false,
"transcript": "NM_020679.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1358,
"cdna_start": 795,
"cds_end": null,
"cds_length": 771,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000245551.9",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000245551.5",
"strand": false,
"transcript": "ENST00000245551.9",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1574,
"cdna_start": 1006,
"cds_end": null,
"cds_length": 771,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000886604.1",
"gene_hgnc_id": 24030,
"gene_symbol": "MIF4GD",
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Gly239Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556663.1",
"strand": false,
"transcript": "ENST00000886604.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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{
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],
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}
]
}