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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: 1-200911751-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200911751&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200911751,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018265.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "NM_001142569.3",
"protein_id": "NP_001136041.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000413687.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142569.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000413687.3",
"protein_id": "ENSP00000392105.2",
"transcript_support_level": 2,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142569.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413687.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1555G>T",
"hgvs_p": "p.Ala519Ser",
"transcript": "ENST00000367342.8",
"protein_id": "ENSP00000356311.5",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 677,
"cds_start": 1555,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367342.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1513G>T",
"hgvs_p": "p.Ala505Ser",
"transcript": "NM_018265.4",
"protein_id": "NP_060735.4",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 663,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018265.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000877560.1",
"protein_id": "ENSP00000547619.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877560.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000877561.1",
"protein_id": "ENSP00000547620.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877561.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000877563.1",
"protein_id": "ENSP00000547622.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877563.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000877565.1",
"protein_id": "ENSP00000547624.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877565.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000877566.1",
"protein_id": "ENSP00000547625.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877566.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000877568.1",
"protein_id": "ENSP00000547627.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877568.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000927410.1",
"protein_id": "ENSP00000597469.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927410.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000927411.1",
"protein_id": "ENSP00000597470.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927411.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "ENST00000927412.1",
"protein_id": "ENSP00000597471.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 578,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927412.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Ala419Ser",
"transcript": "ENST00000877562.1",
"protein_id": "ENSP00000547621.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 577,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877562.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Ala419Ser",
"transcript": "ENST00000877564.1",
"protein_id": "ENSP00000547623.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 577,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877564.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1255G>T",
"hgvs_p": "p.Ala419Ser",
"transcript": "ENST00000927413.1",
"protein_id": "ENSP00000597472.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 577,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927413.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1258G>T",
"hgvs_p": "p.Ala420Ser",
"transcript": "NM_001367289.1",
"protein_id": "NP_001354218.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 558,
"cds_start": 1258,
"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_001367289.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1141G>T",
"hgvs_p": "p.Ala381Ser",
"transcript": "ENST00000927414.1",
"protein_id": "ENSP00000597473.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 539,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927414.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1084G>T",
"hgvs_p": "p.Ala362Ser",
"transcript": "ENST00000877567.1",
"protein_id": "ENSP00000547626.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 520,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877567.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.1084G>T",
"hgvs_p": "p.Ala362Ser",
"transcript": "ENST00000927415.1",
"protein_id": "ENSP00000597474.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 520,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927415.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Ala241Ser",
"transcript": "NM_001367290.1",
"protein_id": "NP_001354219.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 399,
"cds_start": 721,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367290.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INAVA",
"gene_hgnc_id": 25599,
"hgvs_c": "n.-208G>T",
"hgvs_p": null,
"transcript": "ENST00000465162.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000465162.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 4,
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"gene_symbol": "INAVA",
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"transcript": "ENST00000526172.1",
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"aa_start": null,
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000526172.1"
}
],
"gene_symbol": "INAVA",
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"dbsnp": "rs772463898",
"frequency_reference_population": 0.0000012411552,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.85256e-7,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05140930414199829,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.001,
"revel_prediction": "Benign",
"alphamissense_score": 0.077,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.969,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_018265.4",
"gene_symbol": "INAVA",
"hgnc_id": 25599,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1513G>T",
"hgvs_p": "p.Ala505Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}