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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: 8-28717074-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=28717074&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXTL3",
"hgnc_id": 3518,
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001440.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 9,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9822,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Immunoskeletal dysplasia with neurodevelopmental abnormalities,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9648424386978149,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8221,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001440.4",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220562.9",
"protein_coding": true,
"protein_id": "NP_001431.1",
"strand": true,
"transcript": "NM_001440.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8221,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000220562.9",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001440.4",
"protein_coding": true,
"protein_id": "ENSP00000220562.4",
"strand": true,
"transcript": "ENST00000220562.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9090,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001437797.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424726.1",
"strand": true,
"transcript": "NM_001437797.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9100,
"cdna_start": 1659,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438399.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425328.1",
"strand": true,
"transcript": "NM_001438399.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9193,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438400.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425329.1",
"strand": true,
"transcript": "NM_001438400.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9231,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438401.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425330.1",
"strand": true,
"transcript": "NM_001438401.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9228,
"cdna_start": 1787,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438402.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425331.1",
"strand": true,
"transcript": "NM_001438402.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9219,
"cdna_start": 1778,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438751.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425680.1",
"strand": true,
"transcript": "NM_001438751.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9347,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438753.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425682.1",
"strand": true,
"transcript": "NM_001438753.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9009,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696177.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512467.1",
"strand": true,
"transcript": "ENST00000696177.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9103,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000696178.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512468.1",
"strand": true,
"transcript": "ENST00000696178.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6252,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
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],
"exon_count": 7,
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"exon_rank_end": null,
"feature": "ENST00000696184.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512473.1",
"strand": true,
"transcript": "ENST00000696184.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000696186.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512474.1",
"strand": true,
"transcript": "ENST00000696186.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 919,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3848,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869871.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539930.1",
"strand": true,
"transcript": "ENST00000869871.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 1758,
"cds_end": null,
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"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000869872.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539931.1",
"strand": true,
"transcript": "ENST00000869872.1",
"transcript_support_level": null
},
{
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"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6347,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000926356.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596415.1",
"strand": true,
"transcript": "ENST00000926356.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_length": 919,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6475,
"cdna_start": 1917,
"cds_end": null,
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"cds_start": 1015,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
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"feature": "ENST00000926358.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596417.1",
"strand": true,
"transcript": "ENST00000926358.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": 1015,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000926359.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596418.1",
"strand": true,
"transcript": "ENST00000926359.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 1689,
"cds_end": null,
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"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
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"feature": "ENST00000926360.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596419.1",
"strand": true,
"transcript": "ENST00000926360.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7922,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000953976.1",
"gene_hgnc_id": 3518,
"gene_symbol": "EXTL3",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.Arg339Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624035.1",
"strand": true,
"transcript": "ENST00000953976.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 919,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6306,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 2760,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000953977.1",
"gene_hgnc_id": 3518,
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