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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: 1-156200194-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156200194&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156200194,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014655.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_014655.4",
"protein_id": "NP_055470.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 347,
"cds_end": null,
"cds_length": 945,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": "ENST00000359511.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "ENST00000359511.5",
"protein_id": "ENSP00000352497.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 347,
"cds_end": null,
"cds_length": 945,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": "NM_014655.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "ENST00000423538.6",
"protein_id": "ENSP00000407560.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 322,
"cds_start": 347,
"cds_end": null,
"cds_length": 969,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 3662,
"mane_select": null,
"mane_plus": null,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "n.3990G>A",
"hgvs_p": null,
"transcript": "ENST00000469537.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 6952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001286184.2",
"protein_id": "NP_001273113.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 322,
"cds_start": 347,
"cds_end": null,
"cds_length": 969,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001377385.1",
"protein_id": "NP_001364314.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 322,
"cds_start": 347,
"cds_end": null,
"cds_length": 969,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001377386.1",
"protein_id": "NP_001364315.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 347,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001377387.1",
"protein_id": "NP_001364316.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 347,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001377388.1",
"protein_id": "NP_001364317.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 347,
"cds_end": null,
"cds_length": 945,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001377389.1",
"protein_id": "NP_001364318.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 209,
"cds_start": 347,
"cds_end": null,
"cds_length": 630,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "NM_001377390.1",
"protein_id": "NP_001364319.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 209,
"cds_start": 347,
"cds_end": null,
"cds_length": 630,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 4068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "XM_011510180.2",
"protein_id": "XP_011508482.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 322,
"cds_start": 347,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "XM_011510181.3",
"protein_id": "XP_011508483.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 322,
"cds_start": 347,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "XM_047435097.1",
"protein_id": "XP_047291053.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 322,
"cds_start": 347,
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"cdna_start": 1914,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "XM_047435098.1",
"protein_id": "XP_047291054.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 314,
"cds_start": 347,
"cds_end": null,
"cds_length": 945,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "XM_047435101.1",
"protein_id": "XP_047291057.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
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"cds_start": 347,
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"cdna_start": 1185,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "XM_047435102.1",
"protein_id": "XP_047291058.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 209,
"cds_start": 347,
"cds_end": null,
"cds_length": 630,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp",
"transcript": "XM_047435103.1",
"protein_id": "XP_047291059.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 209,
"cds_start": 347,
"cds_end": null,
"cds_length": 630,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "c.114+5947G>A",
"hgvs_p": null,
"transcript": "ENST00000684582.1",
"protein_id": "ENSP00000507428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "n.305+4021G>A",
"hgvs_p": null,
"transcript": "NR_104408.2",
"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
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "n.144+5947G>A",
"hgvs_p": null,
"transcript": "NR_104411.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "n.144+5947G>A",
"hgvs_p": null,
"transcript": "NR_104412.2",
"protein_id": null,
"transcript_support_level": null,
"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": 2701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "n.-196G>A",
"hgvs_p": null,
"transcript": "ENST00000468973.2",
"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": 271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"hgvs_c": "n.*8G>A",
"hgvs_p": null,
"transcript": "ENST00000482737.1",
"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": 456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A44",
"gene_hgnc_id": 29036,
"dbsnp": "rs769559676",
"frequency_reference_population": 6.8405535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84055e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9546225070953369,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.93,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.736,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_014655.4",
"gene_symbol": "SLC25A44",
"hgnc_id": 29036,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.347G>A",
"hgvs_p": "p.Gly116Asp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}