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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: 7-87402192-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=87402192&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 87402192,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000443.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3744G>T",
"hgvs_p": "p.Gly1248Gly",
"transcript": "NM_000443.4",
"protein_id": "NP_000434.1",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3744,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3797,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "ENST00000649586.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3744G>T",
"hgvs_p": "p.Gly1248Gly",
"transcript": "ENST00000649586.2",
"protein_id": "ENSP00000496956.2",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3744,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3797,
"cdna_end": null,
"cdna_length": 4293,
"mane_select": "NM_000443.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3765G>T",
"hgvs_p": "p.Gly1255Gly",
"transcript": "ENST00000265723.8",
"protein_id": "ENSP00000265723.4",
"transcript_support_level": 1,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3765,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3877,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3744G>T",
"hgvs_p": "p.Gly1248Gly",
"transcript": "ENST00000359206.8",
"protein_id": "ENSP00000352135.3",
"transcript_support_level": 1,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3744,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3828,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3765G>T",
"hgvs_p": "p.Gly1255Gly",
"transcript": "NM_018849.3",
"protein_id": "NP_061337.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3765,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3818,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3603G>T",
"hgvs_p": "p.Gly1201Gly",
"transcript": "NM_018850.3",
"protein_id": "NP_061338.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3656,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3603G>T",
"hgvs_p": "p.Gly1201Gly",
"transcript": "ENST00000453593.5",
"protein_id": "ENSP00000392983.1",
"transcript_support_level": 5,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3603,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 3603,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.177G>T",
"hgvs_p": "p.Gly59Gly",
"transcript": "ENST00000440025.1",
"protein_id": "ENSP00000395716.1",
"transcript_support_level": 3,
"aa_start": 59,
"aa_end": null,
"aa_length": 98,
"cds_start": 177,
"cds_end": null,
"cds_length": 297,
"cdna_start": 178,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3765G>T",
"hgvs_p": "p.Gly1255Gly",
"transcript": "XM_011516308.4",
"protein_id": "XP_011514610.4",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3765,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 4028,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3744G>T",
"hgvs_p": "p.Gly1248Gly",
"transcript": "XM_011516309.4",
"protein_id": "XP_011514611.4",
"transcript_support_level": null,
"aa_start": 1248,
"aa_end": null,
"aa_length": 1287,
"cds_start": 3744,
"cds_end": null,
"cds_length": 3864,
"cdna_start": 4007,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3624G>T",
"hgvs_p": "p.Gly1208Gly",
"transcript": "XM_047420475.1",
"protein_id": "XP_047276431.1",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3624,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "c.3498G>T",
"hgvs_p": "p.Gly1166Gly",
"transcript": "XM_047420476.1",
"protein_id": "XP_047276432.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3498,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 3551,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.356G>T",
"hgvs_p": null,
"transcript": "ENST00000467983.1",
"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": 414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.4028G>T",
"hgvs_p": null,
"transcript": "XR_007060045.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3923G>T",
"hgvs_p": null,
"transcript": "XR_007060046.1",
"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": 8633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3902G>T",
"hgvs_p": null,
"transcript": "XR_007060047.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3899G>T",
"hgvs_p": null,
"transcript": "XR_007060048.1",
"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": 8609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3887G>T",
"hgvs_p": null,
"transcript": "XR_007060049.1",
"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": 8597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3866G>T",
"hgvs_p": null,
"transcript": "XR_007060050.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3818G>T",
"hgvs_p": null,
"transcript": "XR_007060051.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8528,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3713G>T",
"hgvs_p": null,
"transcript": "XR_007060052.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3656G>T",
"hgvs_p": null,
"transcript": "XR_007060053.1",
"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": 8366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB4",
"gene_hgnc_id": 45,
"hgvs_c": "n.3656G>T",
"hgvs_p": null,
"transcript": "XR_007060054.1",
"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,
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"cdna_length": 6722,
"mane_select": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "ABCB4",
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"hgvs_c": "n.3241G>T",
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"transcript": "XR_007060055.1",
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"aa_length": null,
"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "ABCB4",
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"dbsnp": "rs752913074",
"frequency_reference_population": 6.840881e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84088e-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": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.054,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000443.4",
"gene_symbol": "ABCB4",
"hgnc_id": 45,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "SD,AR,AD",
"hgvs_c": "c.3744G>T",
"hgvs_p": "p.Gly1248Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}