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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: 8-28718029-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=28718029&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 28718029,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000220562.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001440.4",
"protein_id": "NP_001431.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 8221,
"mane_select": "ENST00000220562.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "ENST00000220562.9",
"protein_id": "ENSP00000220562.4",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 8221,
"mane_select": "NM_001440.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001437797.1",
"protein_id": "NP_001424726.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2604,
"cdna_end": null,
"cdna_length": 9090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001438399.1",
"protein_id": "NP_001425328.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 9100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001438400.1",
"protein_id": "NP_001425329.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2707,
"cdna_end": null,
"cdna_length": 9193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001438401.1",
"protein_id": "NP_001425330.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2745,
"cdna_end": null,
"cdna_length": 9231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001438402.1",
"protein_id": "NP_001425331.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2742,
"cdna_end": null,
"cdna_length": 9228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001438751.1",
"protein_id": "NP_001425680.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2733,
"cdna_end": null,
"cdna_length": 9219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "NM_001438753.1",
"protein_id": "NP_001425682.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2861,
"cdna_end": null,
"cdna_length": 9347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "ENST00000696177.1",
"protein_id": "ENSP00000512467.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 9009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "ENST00000696178.1",
"protein_id": "ENSP00000512468.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2618,
"cdna_end": null,
"cdna_length": 9103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "ENST00000696184.1",
"protein_id": "ENSP00000512473.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 6252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "ENST00000696186.1",
"protein_id": "ENSP00000512474.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 8030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "ENST00000696180.1",
"protein_id": "ENSP00000512470.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
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"cds_start": 1970,
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"cdna_start": 2699,
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"cdna_length": 6274,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "ENST00000696179.1",
"protein_id": "ENSP00000512469.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 899,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2700,
"cdna_start": 2699,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "XM_024447096.2",
"protein_id": "XP_024302864.1",
"transcript_support_level": null,
"aa_start": 657,
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"cds_start": 1970,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "XM_047421515.1",
"protein_id": "XP_047277471.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
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"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 8185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.1970A>C",
"hgvs_p": "p.Asn657Thr",
"transcript": "XM_047421517.1",
"protein_id": "XP_047277473.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
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"cdna_start": 12983,
"cdna_end": null,
"cdna_length": 18506,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "n.1970A>C",
"hgvs_p": null,
"transcript": "ENST00000696181.1",
"protein_id": "ENSP00000512471.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "n.2603A>C",
"hgvs_p": null,
"transcript": "ENST00000696185.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "c.-114-13194A>C",
"hgvs_p": null,
"transcript": "ENST00000696182.1",
"protein_id": "ENSP00000512472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
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"cdna_length": 6464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "n.631+1963A>C",
"hgvs_p": null,
"transcript": "ENST00000519886.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EXTL3",
"gene_hgnc_id": 3518,
"hgvs_c": "n.146+7526A>C",
"hgvs_p": null,
"transcript": "ENST00000521532.5",
"protein_id": null,
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}
],
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"dbsnp": "rs770842408",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.8743792772293091,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.246,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Asn657Thr"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}