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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-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=28718029&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 28718029,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001440.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220562.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001440.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220562.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437797.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438399.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438400.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438401.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438402.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438751.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438753.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696177.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696178.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696184.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696186.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000869871.1",
"protein_id": "ENSP00000539930.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869871.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000869872.1",
"protein_id": "ENSP00000539931.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869872.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000926356.1",
"protein_id": "ENSP00000596415.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926356.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000926358.1",
"protein_id": "ENSP00000596417.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926358.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000926359.1",
"protein_id": "ENSP00000596418.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926359.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000926360.1",
"protein_id": "ENSP00000596419.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926360.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000953976.1",
"protein_id": "ENSP00000624035.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953976.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000953977.1",
"protein_id": "ENSP00000624036.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953977.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"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>G",
"hgvs_p": "p.Asn657Ser",
"transcript": "ENST00000953978.1",
"protein_id": "ENSP00000624037.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 919,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.246,
"phylop100way_prediction": "Pathogenic",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Immunoskeletal dysplasia with neurodevelopmental abnormalities,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Immunoskeletal dysplasia with neurodevelopmental abnormalities|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}