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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: 19-34366405-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=34366405&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 34366405,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001289789.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_000175.5",
"protein_id": "NP_000166.2",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 558,
"cds_start": 183,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356487.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000175.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000356487.11",
"protein_id": "ENSP00000348877.3",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 558,
"cds_start": 183,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000175.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356487.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "NM_001289789.1",
"protein_id": "NP_001276718.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 597,
"cds_start": 300,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289789.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "NM_001440422.1",
"protein_id": "NP_001427351.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 597,
"cds_start": 300,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440422.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "ENST00000415930.8",
"protein_id": "ENSP00000405573.3",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 597,
"cds_start": 300,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415930.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.225G>T",
"hgvs_p": "p.Thr75Thr",
"transcript": "ENST00000899688.1",
"protein_id": "ENSP00000569747.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 572,
"cds_start": 225,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899688.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "NM_001184722.1",
"protein_id": "NP_001171651.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 569,
"cds_start": 300,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184722.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "ENST00000588991.7",
"protein_id": "ENSP00000465858.3",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 569,
"cds_start": 300,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588991.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001329909.1",
"protein_id": "NP_001316838.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 558,
"cds_start": 183,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329909.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001329910.1",
"protein_id": "NP_001316839.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 558,
"cds_start": 183,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329910.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000921283.1",
"protein_id": "ENSP00000591342.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 558,
"cds_start": 183,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921283.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001329911.2",
"protein_id": "NP_001316840.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 549,
"cds_start": 183,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329911.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000899687.1",
"protein_id": "ENSP00000569746.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 535,
"cds_start": 183,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899687.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001289790.3",
"protein_id": "NP_001276719.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 530,
"cds_start": 183,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289790.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.69G>T",
"hgvs_p": "p.Thr23Thr",
"transcript": "ENST00000586425.2",
"protein_id": "ENSP00000467670.3",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 446,
"cds_start": 69,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586425.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000589399.6",
"protein_id": "ENSP00000468201.2",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 169,
"cds_start": 183,
"cds_end": null,
"cds_length": 511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589399.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000589640.5",
"protein_id": "ENSP00000467590.2",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 165,
"cds_start": 183,
"cds_end": null,
"cds_length": 500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589640.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000591204.5",
"protein_id": "ENSP00000466851.2",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 161,
"cds_start": 183,
"cds_end": null,
"cds_length": 488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591204.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "ENST00000590375.5",
"protein_id": "ENSP00000467221.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 158,
"cds_start": 183,
"cds_end": null,
"cds_length": 478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590375.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "ENST00000592277.5",
"protein_id": "ENSP00000466191.1",
"transcript_support_level": 4,
"aa_start": 100,
"aa_end": null,
"aa_length": 145,
"cds_start": 300,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592277.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "ENST00000642240.1",
"protein_id": "ENSP00000496041.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 144,
"cds_start": 300,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642240.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPI",
"gene_hgnc_id": 4458,
"hgvs_c": "c.300G>T",
"hgvs_p": "p.Thr100Thr",
"transcript": "ENST00000587384.6",
"protein_id": "ENSP00000468298.2",
"transcript_support_level": 3,
"aa_start": 100,
"aa_end": null,
"aa_length": 138,
"cds_start": 300,
"cds_end": null,
"cds_length": 419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587384.6"
},
{
"aa_ref": "T",
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{
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.79,
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"phylop100way_prediction": "Benign",
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"acmg_score": -3,
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{
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"BP4_Strong",
"BP7"
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"verdict": "Likely_benign",
"transcript": "NM_001289789.1",
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"effects": [
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"inheritance_mode": "AR",
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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
}